Choroby siatkówki
Diagnostyka i diagnoza
Choroby siatkówki, takie jak retinopatia cukrzycowa (DR), retinopatia wcześniaków (ROP) oraz zwyrodnienie plamki żółtej związane z wiekiem (AMD), stanowią istotne zagrożenie dla widzenia, prowadząc do znacznej utraty wzroku lub ślepoty. Diagnostyka opiera się na kompleksowym badaniu okulistycznym, w tym badaniu dna oka z rozszerzeniem źrenicy, oraz zaawansowanych technikach obrazowania, takich jak optyczna koherentna tomografia (OCT) o rozdzielczości około 6 μm, angiografia fluoresceinowa (FA), angiografia indocyjaninowa (ICG), autofluorescencja dna oka (FAF), OCT-angiografia (OCTA) i ultrasonografia oka. Badania elektrofizjologiczne (ERG, mfERG, EOG, VEP) oraz testy funkcjonalne, np. test siatki Amslera i perymetria komputerowa, uzupełniają diagnostykę, pozwalając na ocenę funkcji siatkówki i pola widzenia. W przypadku chorób dziedzicznych siatkówki (IRD) kluczowe jest wykonanie badań genetycznych (sekwencjonowanie pojedynczych genów, panele genowe, WES, WGS) oraz poradnictwo genetyczne, co umożliwia potwierdzenie diagnozy, ocenę ryzyka rodzinnego oraz kwalifikację do terapii genowych, np. voretigene neparvovec-rzyl (Luxturna) dla mutacji RPE65.
- Wprowadzenie do diagnostyki chorób siatkówki
- Typowe objawy chorób siatkówki
- Kompleksowe badanie okulistyczne w diagnostyce chorób siatkówki
- Zaawansowane techniki obrazowania w diagnostyce chorób siatkówki
- Optyczna koherentna tomografia (OCT)
- Angiografia fluoresceinowa (FA)
- Angiografia indocyjaninowa (ICG)
- Autofluorescencja dna oka (FAF)
- OCT-angiografia (OCTA)
- Ultrasonografia oka
- Specjalistyczne testy funkcjonalne w diagnostyce chorób siatkówki
- Diagnostyka genetyczna chorób siatkówki
- Znaczenie diagnostyki genetycznej
- Rodzaje testów genetycznych
- Znaczenie poradnictwa genetycznego
- Przykład terapii genowej dla chorób siatkówki
- Sztuczna inteligencja w diagnostyce chorób siatkówki
- Zastosowanie AI w badaniach przesiewowych
- AI w diagnostyce innych chorób siatkówki
- Modele głębokich sieci neuronowych
- Wyzwania i perspektywy
- Postępowanie diagnostyczne w wybranych chorobach siatkówki
- Retinopatia cukrzycowa
- Zwyrodnienie plamki żółtej związane z wiekiem (AMD)
- Barwnikowe zwyrodnienie siatkówki (RP)
- Odwarstwienie siatkówki
- Znaczenie wczesnej diagnostyki i monitorowania
- Podsumowanie diagnostyki chorób siatkówki
Wprowadzenie do diagnostyki chorób siatkówki
Choroby siatkówki stanowią różnorodną grupę schorzeń, które mogą prowadzić do znacznego pogorszenia widzenia, a nawet ślepoty. Siatkówka, jako warstwa światłoczuła znajdująca się w tylnej części oka, jest odpowiedzialna za konwersję światła w impulsy nerwowe, które następnie są przesyłane do mózgu w celu utworzenia obrazów. Uszkodzenie tej delikatnej tkanki może mieć poważne konsekwencje dla widzenia pacjenta.12
Choroby siatkówki są najczęstszą przyczyną ślepoty w krajach o niższych dochodach i drugą najczęstszą przyczyną w krajach o wyższych dochodach. W wielu przypadkach wcześnie zdiagnozowane schorzenia siatkówki mogą być skutecznie leczone, co pozwala na zachowanie, poprawę lub przywrócenie widzenia. Nieleczone choroby siatkówki mogą prowadzić do nieodwracalnej utraty wzroku.34
Do najważniejszych chorób siatkówki o znaczeniu dla zdrowia publicznego należą retinopatia cukrzycowa (DR), retinopatia wcześniaków (ROP) oraz zwyrodnienie plamki żółtej związane z wiekiem (AMD). Wczesna i dokładna diagnostyka jest niezbędna dla skutecznego leczenia i zapobiegania utracie wzroku.5
Typowe objawy chorób siatkówki
Choroby siatkówki mogą powodować różnorodne objawy, które wpływają na widzenie pacjenta. Rozpoznanie tych objawów jest kluczowe dla wczesnej interwencji. Do najczęstszych objawów chorób siatkówki należą:6
- Mętki (floaters) i błyski światła w polu widzenia
- Zamazane lub zniekształcone widzenie
- Ślepe plamy w centralnym lub obwodowym polu widzenia
- Zniekształcenia widzenia (np. proste linie wydają się krzywe)
- Nagła utrata widzenia
- Trudności z widzeniem w nocy lub dostosowaniem się do zmiany oświetlenia
Szczególnie niepokojące są nagłe objawy, takie jak mętki, błyski światła czy nagłe pogorszenie widzenia, które mogą wskazywać na poważne schorzenia siatkówki wymagające natychmiastowej interwencji medycznej.78
Kompleksowe badanie okulistyczne w diagnostyce chorób siatkówki
Podstawą diagnostyki chorób siatkówki jest kompleksowe badanie okulistyczne. Aby zdiagnozować chorobę siatkówki, okulista przeprowadza dokładne badanie oka, poszukując nieprawidłowości w całym narządzie wzroku. Kluczowe elementy badania to:910
Wywiad i badanie podstawowe
Proces diagnostyczny rozpoczyna się od dokładnego wywiadu medycznego, uwzględniającego historię osobistą i rodzinną pacjenta. Okulista zbiera informacje na temat chorób ogólnoustrojowych, które mogą wpływać na stan siatkówki, takich jak cukrzyca czy nadciśnienie tętnicze. Następnie przeprowadza kompleksowe badanie oka z szczególnym uwzględnieniem siatkówki i plamki żółtej.11
Badanie z rozszerzeniem źrenicy
Badanie dna oka z rozszerzeniem źrenicy jest niezbędne do dokładnej oceny siatkówki. Okulista podaje krople rozszerzające źrenicę, aby uzyskać lepszy widok tylnej części oka. Przy użyciu oftalmoskopu lub biomikroskopu z lampą szczelinową, lekarz może bezpośrednio obserwować siatkówkę, naczynia krwionośne, nerw wzrokowy i inne struktury oka.1213
Badanie dna oka pozwala na wykrycie wielu nieprawidłowości, takich jak wybroczyny, wysięki, obrzęk, neowaskularyzacja czy odwarstwienie siatkówki. Jest to podstawowe badanie, które może wskazać na potrzebę dalszej diagnostyki.14
Zaawansowane techniki obrazowania w diagnostyce chorób siatkówki
Nowoczesne techniki obrazowania znacząco poprawiły możliwości diagnostyczne w zakresie chorób siatkówki. Pozwalają one na wczesne wykrywanie zmian patologicznych, monitorowanie progresji choroby oraz ocenę skuteczności leczenia.15
Optyczna koherentna tomografia (OCT)
Optyczna koherentna tomografia (OCT) jest nieinwazyjną techniką obrazowania, która umożliwia uzyskanie przekrojowych obrazów siatkówki o wysokiej rozdzielczości. OCT jest porównywana do histopatologicznego przekroju tkanki i umożliwia wykrycie wielu subtelnych patologii, które mogą być przeoczone podczas standardowego badania klinicznego.1617
OCT jest szczególnie przydatna w diagnostyce i monitorowaniu takich chorób jak:1819
- Zwyrodnienie plamki żółtej związane z wiekiem (AMD)
- Retinopatia cukrzycowa
- Obrzęk plamki żółtej
- Otwory i błony przedplamkowe
- Centralna surowicza retinopatia
OCT pozwala na dokładny pomiar grubości siatkówki, wykrycie płynu podsiatkówkowego, ocenę struktury plamki żółtej oraz identyfikację zmian w naczyniówce. Dzięki wysokiej rozdzielczości (około 6 mikrometrów), OCT umożliwia precyzyjne obrazowanie poszczególnych warstw siatkówki.2021
Angiografia fluoresceinowa (FA)
Angiografia fluoresceinowa jest badaniem, które wykorzystuje dożylne podanie barwnika (fluoresceiny), aby uwidocznić naczynia krwionośne siatkówki. Badanie to pozwala na ocenę przepływu krwi, wykrycie obszarów niedokrwienia, identyfikację nieprawidłowych naczyń oraz wykrycie przecieków z naczyń.2223
FA jest szczególnie przydatna w diagnostyce:2425
- Retinopatii cukrzycowej
- Neowaskularnej postaci AMD
- Zakrzepów żył siatkówki
- Zapalenia naczyń siatkówki
- Choroby Coatsa i rodzinnej wysiękowej witreoretinopatii
Badanie to umożliwia wykrycie nieprawidłowości naczyniowych, które mogą nie być widoczne podczas standardowego badania klinicznego.26
Angiografia indocyjaninowa (ICG)
Angiografia indocyjaninowa wykorzystuje barwnik indocyjaninę zieloną, który świeci pod wpływem światła podczerwonego. Metoda ta jest szczególnie przydatna do obrazowania głębszych warstw naczyniowych, zwłaszcza naczyniówki.2728
ICG jest stosowana głównie w diagnostyce chorób naczyniówki, takich jak:29
- Naczyniowa postać AMD
- Polipoidalna waskulopatia naczyniówkowa
- Centralna surowicza chorioretinopatia
- Naczyniaki naczyniówki
Autofluorescencja dna oka (FAF)
Autofluorescencja dna oka jest nieinwazyjną techniką obrazowania, która wykorzystuje naturalną fluorescencję tkanki siatkówki do oceny stanu nabłonka barwnikowego siatkówki (RPE) i metabolitów (lipofuscyny). Badanie to jest szczególnie przydatne w ocenie stanu i progresji zwyrodnienia plamki żółtej oraz innych dystrofii siatkówki.3031
FAF dostarcza informacji o patofizjologii chorób siatkówki i pomaga okulistom lepiej zrozumieć naturę schorzeń plamki i siatkówki, co umożliwia dokładniejsze diagnozowanie.32
OCT-angiografia (OCTA)
OCT-angiografia jest zaawansowaną techniką obrazowania, która łączy tradycyjną OCT z możliwością obrazowania mikrokrążenia siatkówki i naczyniówki bez konieczności podawania barwnika. Metoda ta pozwala na trójwymiarową wizualizację sieci naczyń krwionośnych na poziomie kapilar.33
OCTA jest szczególnie przydatna w diagnostyce:34
- Neowaskularyzacji podsiatkówkowej
- Retinopatii cukrzycowej
- Zakrzepów żył siatkówki
- Nowotworów naczyniowych siatkówki
Ultrasonografia oka
Ultrasonografia oka jest badaniem wykorzystującym fale dźwiękowe o wysokiej częstotliwości do obrazowania struktur oka. Jest to metoda szczególnie przydatna w przypadkach, gdy bezpośrednie badanie dna oka jest niemożliwe z powodu zmętnienia ośrodków optycznych (np. zaćma, krwotok do ciała szklistego).3536
Ultrasonografia pozwala na ocenę:37
- Odwarstwienia siatkówki
- Guzów wewnątrzgałkowych
- Krwotoków do ciała szklistego
- Ciał obcych wewnątrzgałkowych
Specjalistyczne testy funkcjonalne w diagnostyce chorób siatkówki
Test siatki Amslera
Test siatki Amslera jest prostym badaniem służącym do oceny centralnego pola widzenia. Jest szczególnie przydatny w wykrywaniu wczesnych objawów chorób plamki żółtej, takich jak AMD. Pacjent patrzy na siatkę i zgłasza wszelkie nieprawidłowości, takie jak krzywizny linii, brakujące fragmenty czy zniekształcenia.3839
Skomputeryzowana wersja testu Amslera, znana jako Preferential Hyperacuity Periperimery (PHP), oferuje bardziej zaawansowaną ocenę zmian w plamce żółtej.40
Elektrofizjologia wzroku
Badania elektrofizjologiczne są wykorzystywane do oceny funkcji siatkówki poprzez pomiar jej odpowiedzi elektrycznej na stymulację świetlną. Do najważniejszych badań elektrofizjologicznych należą:4142
- Elektroretinografia (ERG) – pozwala ocenić funkcję fotoreceptorów (pręcików i czopków) oraz innych komórek siatkówki. Jest szczególnie przydatna w diagnostyce dystrofii siatkówki, takich jak barwnikowe zwyrodnienie siatkówki (RP).
- Multifokalna elektroretinografia (mfERG) – umożliwia mapowanie funkcji siatkówki w różnych jej obszarach, co jest szczególnie przydatne w diagnostyce schorzeń plamki żółtej.
- Elektrookulografia (EOG) – ocenia funkcję nabłonka barwnikowego siatkówki (RPE).
- Potencjały wywołane wzrokowo (VEP) – badają przewodnictwo nerwowe od siatkówki do kory wzrokowej mózgu.
ERG jest przydatne w ocenie wielu wrodzonych i nabytych zaburzeń siatkówki, w tym:43
- Barwnikowe zwyrodnienie siatkówki (RP)
- Wrodzona ślepota Lebera
- Retinoschiza młodzieńcza sprzężona z chromosomem X
- Dystrofie czopków
- Zespół Ushera
Adaptometria do ciemności
Adaptometria do ciemności jest badaniem oceniającym zdolność oka do przystosowania się do widzenia w warunkach słabego oświetlenia. Jest szczególnie przydatna w diagnostyce chorób związanych z dysfunkcją pręcików, takich jak barwnikowe zwyrodnienie siatkówki (RP) czy niedobór witaminy A.44
Perymetria komputerowa
Perymetria komputerowa jest badaniem służącym do oceny pola widzenia. Pozwala na wykrycie ubytków w polu widzenia, które mogą być związane z chorobami siatkówki lub nerwu wzrokowego. Badanie to jest szczególnie przydatne w monitorowaniu progresji chorób i ocenie skuteczności leczenia.45
Diagnostyka genetyczna chorób siatkówki
Choroby dziedziczne siatkówki (IRD) są zróżnicowaną grupą schorzeń degeneracyjnych, które mogą prowadzić do znacznego pogorszenia widzenia i ślepoty. Ze względu na nakładanie się fenotypowe wielu IRD, badania genetyczne są kluczowym krokiem w uzyskaniu ostatecznej diagnozy dla dotkniętych osób i umożliwieniu dostępu do pojawiających się terapii genowych oraz trwających badań klinicznych.46
Znaczenie diagnostyki genetycznej
Diagnostyka molekularna stała się ważną strategią uzupełniającą wyniki kliniczne i potwierdzającą lub wyjaśniającą diagnozę. Amerykańska Akademia Okulistyki i Europejska Sieć Referencyjnych Chorób Rzadkich Oczu zalecają badania genetyczne dla wszystkich osób z podejrzeniem lub podejrzeniem chorób dziedzicznych siatkówki, dla których zidentyfikowano gen lub geny przyczynowe.47
Korzyści z identyfikacji podłoża genetycznego choroby siatkówki obejmują:48
- Potwierdzenie lub doprecyzowanie diagnozy
- Lepsze zrozumienie, jak choroba może wpływać na widzenie w ciągu życia pacjenta
- Możliwość badania członków rodziny w celu identyfikacji osób zagrożonych dziedziczeniem choroby
- Kwalifikacja do udziału w badaniach klinicznych i dostęp do nowych terapii
Rodzaje testów genetycznych
Istnieje kilka podejść do badań genetycznych w chorobach siatkówki:4950
- Sekwencjonowanie pojedynczych genów – może być wystarczające dla IRD z jednym zidentyfikowanym genem, ale nieefektywne dla bardziej złożonych IRD z wysokim stopniem heterogenności genetycznej
- Panele genowe – badanie grup genów związanych z określonymi fenotypami IRD
- Sekwencjonowanie całego eksonu (WES) – analiza wszystkich regionów kodujących białka w genomie
- Sekwencjonowanie całego genomu (WGS) – najnowsza metoda, która umożliwia identyfikację patogennych wariantów strukturalnych (SV) i intronowych, zwiększając wydajność diagnostyczną IRD
Przy przetwarzaniu wyników badań genetycznych, zidentyfikowane warianty są analizowane w celu określenia ich potencjalnego związku z fenotypem IRD. Interpretacja wariantów genetycznych, zgodnie z definicją American College of Medical Genetics, jest klasyfikowana przy użyciu 5-stopniowego systemu klasyfikacji.51
Znaczenie poradnictwa genetycznego
Poradnictwo genetyczne jest krytycznym elementem procesu badań genetycznych. Doradcy genetyczni pomagają pacjentom i ich rodzinom zrozumieć ograniczenia i korzyści z badań genetycznych, a także interpretację wyników testów.5253
Na podstawie wyników badań genetycznych, doradcy informują również o implikacjach wyników dla zagrożonych członków rodziny, oferują odpowiednie strategie badań przesiewowych lub zapobiegawczych oraz edukcję o innych potencjalnych efektach zdrowotnych lub wpływie na styl życia.54
Przykład terapii genowej dla chorób siatkówki
Identyfikacja mutacji genetycznej może umożliwić pacjentom dostęp do najnowszych opcji leczenia lub kwalifikację do udziału w badaniach. Przykładem jest voretigene neparvovec-rzyl (Luxturna), zatwierdzona terapia genowa dla dystrofii siatkówki związanej z mutacją genu RPE65.5556
Ważne jest, aby pacjenci z podejrzeniem dziedzicznej choroby siatkówki byli kierowani na odpowiednie badania genetyczne i konsultację z doradcą genetycznym, który może pomóc w zamawianiu i interpretacji testów. Identyfikacja mutacji jest istotna, ponieważ może dostarczyć informacji o przebiegu choroby i możliwym wpływie na członków rodziny, a także może kwalifikować pacjenta do terapii genowej lub udziału w badaniach klinicznych.57
Sztuczna inteligencja w diagnostyce chorób siatkówki
Sztuczna inteligencja (AI) staje się coraz ważniejszym narzędziem w analizie danych okulistycznych, odkrywając nowe kliniczne i patogenetyczne aspekty chorób siatkówki. Algorytmy oparte na AI są szeroko stosowane w diagnozowaniu najbardziej rozpowszechnionych chorób siatkówki, w tym retinopatii cukrzycowej, zwyrodnienia plamki żółtej związanego z wiekiem i krótkowzroczności.58
Zastosowanie AI w badaniach przesiewowych
Systemy oparte na AI są szczególnie skuteczne w badaniach przesiewowych pod kątem retinopatii. Modele AI rozpoznają zmiany związane z retinopatią cukrzycową, takie jak krwotoki, wysięki, ogniska waty i neowaskularyzacja, a następnie określają obecność lub brak retinopatii cukrzycowej oraz klasyfikują ją według konwencjonalnych skal stopniowania.59
Przykłady zatwierdzonych systemów AI do badań przesiewowych retinopatii cukrzycowej to:6061
- IDx-DR – pierwszy system AI zatwierdzony przez amerykańską Agencję ds. Żywności i Leków (FDA) do wykrywania retinopatii cukrzycowej
- EyeArt – zatwierdzone w Europie jako urządzenie medyczne klasy IIa do wspomagania badań przesiewowych w kierunku retinopatii cukrzycowej
- RetmarkerDR – urządzenie medyczne klasy IIa z oznaczeniem CE, zdolne do rozróżniania oczu z retinopatią cukrzycową od oczu bez retinopatii i pomiaru wskaźnika obrotu mikroaeuryzmatów w czasie obserwacji
AI w diagnostyce innych chorób siatkówki
Sztuczna inteligencja jest również wykorzystywana do diagnostyki innych chorób siatkówki:6263
- Zwyrodnienie plamki żółtej związane z wiekiem (AMD) – AI pomaga w ocenie odpowiedzi na leczenie i czynników przewidujących wynik widzenia
- Krótkowzroczność – AI wykorzystywana jest do prognozowania progresji krótkowzroczności i obliczania ryzyka rozwoju wysokiej lub nawet patologicznej krótkowzroczności
- Dystrofie siatkówki dziedziczne – AI testowana jest w segmentacji struktur siatkówki na OCT, wykrywaniu zmian atroficznych i śledzeniu tych zmian w czasie
- Retinopatia wcześniaków (ROP) – poprawa diagnostyki ROP za pomocą modeli AI może pozwolić na wcześniejszą identyfikację i szybkie leczenie, co zmniejszyłoby wpływ na funkcję wzroku i poprawiło jakość życia pacjentów
Modele głębokich sieci neuronowych
Głębokie sieci neuronowe, szczególnie konwolucyjne sieci neuronowe (CNN), wykazują wysoką skuteczność w diagnozowaniu chorób siatkówki na podstawie obrazów OCT. Proponowana architektura CNN osiąga dokładność 97,01%, czułość 93,43% i swoistość 98,07% w klasyfikacji trzech typów chorób siatkówki: neowaskularyzacji naczyniówkowej (CNV), zwyrodnienia plamki żółtej z druzami (DMD) i cukrzycowego obrzęku plamki żółtej (DME).6465
Proponowany model może być wykorzystany do masowych badań przesiewowych chorób siatkówki. Wczesne wykrywanie chorób siatkówki zapobiega progresji choroby i utracie wzroku. Techniki te mogą pomóc okulistom w skutecznej analizie obrazów siatkówki, zapewniając lepsze leczenie na wczesnym etapie, zapobiegając tym samym ślepocie.66
Wyzwania i perspektywy
Mimo obiecujących wyników, zastosowanie sztucznej inteligencji w diagnostyce chorób siatkówki napotyka na pewne wyzwania:6768
- Zjawisko „czarnej skrzynki” – trudności w interpretacji decyzji podejmowanych przez algorytmy AI
- Ograniczona liczba obrazów szkoleniowych dla rzadszych chorób siatkówki
- Potrzeba zatwierdzenia przez odpowiednie organy regulacyjne dla każdej kombinacji konkretnego algorytmu z konkretnym aparatem
- Brak kompleksowej zdolności diagnostycznej, jaką posiadają ludzcy lekarze, w wykrywaniu wszystkich patologii zawartych w obrazie
Przyszłe wysiłki powinny koncentrować się na opracowaniu kontroli jakości danych i metodologii walidacyjnych w celu wiarygodnej oceny wkładu modeli opartych na AI w warunkach klinicznych i badawczych.69
Postępowanie diagnostyczne w wybranych chorobach siatkówki
Retinopatia cukrzycowa
Retinopatia cukrzycowa jest najczęstszą chorobą naczyniową siatkówki i główną przyczyną ślepoty u osób w wieku produkcyjnym. Wczesne wykrycie i leczenie może zapobiec ciężkiej utracie wzroku u 95% pacjentów z retinopatią cukrzycową.7071
Diagnostyka retinopatii cukrzycowej obejmuje:7273
- Badanie dna oka z rozszerzeniem źrenicy
- Optyczną koherentną tomografię (OCT) – do oceny obrzęku plamki żółtej
- Angiografię fluoresceinową – do oceny przecieków z naczyń i obszarów niedokrwienia
- OCT-angiografię – do oceny mikrokrążenia siatkówki
W badaniu okulistycznym poszukuje się charakterystycznych zmian, takich jak:7475
- Mikroaneuryzmaty – małe rozszerzenia naczyń włosowatych
- Krwotoki wewnątrzsiatkówkowe
- Ogniska waty (ang. cotton-wool spots, CWS)
- Wysięki twarde
- Wewnątrzsiatkówkowe nieprawidłowości mikronaczyniowe (IRMA)
- Paciorkowatość żylna
Cukrzycowy obrzęk plamki żółtej (DME) jest główną przyczyną utraty wzroku u pacjentów z cukrzycą i jest diagnozowany za pomocą szczegółowego badania biomikroskopowego z lampą szczelinową i pośredniej oftalmoskopii.76
Zwyrodnienie plamki żółtej związane z wiekiem (AMD)
Zwyrodnienie plamki żółtej związane z wiekiem (AMD) jest główną przyczyną ślepoty u osób powyżej 50 roku życia w krajach rozwiniętych. Istnieją dwie główne postaci AMD: sucha (atroficzna) i mokra (wysiękowa, neowaskularna).7778
- Badanie dna oka z rozszerzeniem źrenicy
- Test siatki Amslera – do oceny centralnego pola widzenia
- Optyczną koherentną tomografię (OCT) – do oceny struktury plamki żółtej i wykrycia płynu podsiatkówkowego
- Angiografię fluoresceinową – do wykrycia neowaskularyzacji podsiatkówkowej w postaci mokrej AMD
- Autofluorescencję dna oka (FAF) – do oceny stanu nabłonka barwnikowego siatkówki
ForeseeHome Monitor jest pierwszym urządzeniem zatwierdzonym przez FDA dla pacjentów z suchą postacią AMD do monitorowania choroby w domu.81
Barwnikowe zwyrodnienie siatkówki (RP)
Barwnikowe zwyrodnienie siatkówki (RP) to termin określający grupę dziedzicznych chorób oczu, które wpływają na siatkówkę. RP jest jedną z najczęściej występujących form dziedzicznej degeneracji siatkówki.8283
W przypadku diagnozy RP lub IRD, ważne jest uzyskanie badań genetycznych, które czasami mogą określić dokładną mutację powodującą chorobę. Badania genetyczne są wykonywane z pomocą specjalnie przeszkolonego doradcy genetycznego, który może pomóc w zamówieniu i interpretacji testu.84
Diagnostyka RP obejmuje:85
- Elektroretinografię – badanie mierzące odpowiedź siatkówki na światło i sprawdzające funkcję różnych komórek siatkówki
- Optyczną koherentną tomografię (OCT) – nieinwazyjna metoda pomiaru grubości siatkówki i analizy integralności siatkówki
- Obrazowanie siatkówki – nieinwazyjne badania ujawniające informacje o stanie siatkówki, używane do diagnostyki, leczenia i monitorowania
- Badania genetyczne – kluczowe dla prawidłowej diagnozy i potencjalnego leczenia
Odwarstwienie siatkówki
Odwarstwienie siatkówki dotyczy 5 na 100 000 osób rocznie. Jest to stan, w którym siatkówka oddziela się od tylnej ściany oka, co może prowadzić do ciężkiej utraty wzroku, jeśli nie zostanie szybko leczone.8687
Diagnostyka odwarstwienia siatkówki obejmuje:88
- Kompleksowe badanie oka z rozszerzeniem źrenicy
- Badanie za pomocą oftalmoskopu do sprawdzenia siatkówki i nerwu wzrokowego pod kątem rozdarć lub odwarstwienia
- Ultrasonografię – szczególnie przydatną, gdy bezpośrednia ocena dna oka jest utrudniona
Objawy odwarstwienia siatkówki, takie jak nagłe pojawienie się mętków, błysków światła czy nagłe pogorszenie widzenia, wymagają natychmiastowej pomocy medycznej.89
Znaczenie wczesnej diagnostyki i monitorowania
Wczesna diagnostyka chorób siatkówki jest kluczowa dla skutecznego leczenia i zapobiegania nieodwracalnej utracie wzroku. Regularne badania okulistyczne umożliwiają wykrycie zmian chorobowych na wczesnym etapie, co zwiększa szanse na skuteczne leczenie.9091
Korzyści z wczesnej diagnostyki obejmują:9293
- Możliwość zatrzymania lub spowolnienia progresji choroby
- Zachowanie, poprawę lub przywrócenie widzenia
- Określenie, które badania kliniczne i nowe metody leczenia mogą być odpowiednie
- Lepsze zrozumienie, jak wzrok może zmieniać się w czasie
- Ustalenie, czy członkowie rodziny mogą być zagrożeni chorobą
Regularne monitorowanie chorób siatkówki pozwala na ocenę skuteczności leczenia i dostosowanie terapii w razie potrzeby. Nowoczesne techniki obrazowania, takie jak OCT, umożliwiają precyzyjne śledzenie zmian w strukturze siatkówki w czasie.94
Podsumowanie diagnostyki chorób siatkówki
Diagnostyka chorób siatkówki jest procesem złożonym, wymagającym zastosowania różnorodnych technik i metod badawczych. Kompleksowe podejście diagnostyczne powinno obejmować:95
- Dokładny wywiad medyczny i badanie okulistyczne
- Zaawansowane techniki obrazowania, takie jak OCT, angiografia fluoresceinowa i autofluorescencja
- Badania funkcjonalne, takie jak elektroretinografia i test siatki Amslera
- Badania genetyczne w przypadku podejrzenia chorób dziedzicznych
Postęp w dziedzinie diagnostyki chorób siatkówki, w tym rozwój technik obrazowania, badań genetycznych i zastosowanie sztucznej inteligencji, umożliwia coraz wcześniejsze i dokładniejsze rozpoznawanie schorzeń siatkówki. Wczesna i precyzyjna diagnostyka jest kluczowa dla skutecznego leczenia i zapobiegania nieodwracalnej utracie wzroku.9697
Współpraca między okulistami, specjalistami chorób siatkówki, genetykami i doradcami genetycznymi jest niezbędna do zapewnienia kompleksowej opieki pacjentom z chorobami siatkówki. Interdyscyplinarne podejście do diagnostyki i leczenia chorób siatkówki pozwala na optymalizację wyników leczenia i poprawę jakości życia pacjentów.98
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Materiały źródłowe
- #1 Retinal diseases – Symptoms and causes – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825
Retinal diseases vary widely, but most of them cause visual symptoms. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] It’s important to pay attention to any changes in your vision and find care quickly. Seek immediate medical attention if you suddenly have floaters, flashes or reduced vision. These are warning signs of potentially serious retinal disease.
- #2 Retinal Diseases: Types, Causes, Symptoms, Treatment, Outlookhttps://www.healthline.com/health/eye-health/retinal-diseases
Retinal diseases are the most common cause of blindness in lower income countries and the second most common cause in higher income countries. […] To diagnose retinal disease, an ophthalmologist (a doctor who specializes in eye conditions) usually asks about your personal and family medical history. They will then perform a comprehensive eye exam. […] Your doctor may also perform other tests such as genetic testing to look for gene changes linked to certain diseases. […] Retinal tears and detachment often require surgical repair. […] Its essential to seek medical attention if you notice changes in your vision. Your outlook is best when retinal diseases are treated early.
- #3 Retinal Diseases: Types, Causes, Symptoms, Treatment, Outlookhttps://www.healthline.com/health/eye-health/retinal-diseases
Retinal diseases are the most common cause of blindness in lower income countries and the second most common cause in higher income countries. […] To diagnose retinal disease, an ophthalmologist (a doctor who specializes in eye conditions) usually asks about your personal and family medical history. They will then perform a comprehensive eye exam. […] Your doctor may also perform other tests such as genetic testing to look for gene changes linked to certain diseases. […] Retinal tears and detachment often require surgical repair. […] Its essential to seek medical attention if you notice changes in your vision. Your outlook is best when retinal diseases are treated early.
- #4 Recent advances in retinal imaging and diagnosticshttps://pmc.ncbi.nlm.nih.gov/articles/PMC7041830/
New imaging technologies like artificial intelligence and deep learning systems show a potential to screen populations at risk of retinal diseases at a large scale in a resource constrained setting. […] Retinal disorders are emerging as important causes of blindness in middle-income countries. […] Diabetic retinopathy (DR), retinopathy of prematurity (ROP) and age-related macular degeneration (ARMD) are the important retinal diseases of public health significance. […] Challenges to provision of screening in resource poor regions such as Asia include lack of specialists and lack of equipment. […] Retinal imaging devices and telemedicine can help address the rural-urban gap, as non-ophthalmologists can screen for retinal diseases to save the precious time of specialists. […] Optical coherence tomography (OCT) is equal to a histopathological section of a tissue.
- #5 Recent advances in retinal imaging and diagnosticshttps://pmc.ncbi.nlm.nih.gov/articles/PMC7041830/
New imaging technologies like artificial intelligence and deep learning systems show a potential to screen populations at risk of retinal diseases at a large scale in a resource constrained setting. […] Retinal disorders are emerging as important causes of blindness in middle-income countries. […] Diabetic retinopathy (DR), retinopathy of prematurity (ROP) and age-related macular degeneration (ARMD) are the important retinal diseases of public health significance. […] Challenges to provision of screening in resource poor regions such as Asia include lack of specialists and lack of equipment. […] Retinal imaging devices and telemedicine can help address the rural-urban gap, as non-ophthalmologists can screen for retinal diseases to save the precious time of specialists. […] Optical coherence tomography (OCT) is equal to a histopathological section of a tissue.
- #6 Retinal Diseases: Overview and Typeshttps://my.clevelandclinic.org/health/diseases/24853-retinal-diseases
Your retina is sensitive to light and located at the back of your eye. Damage can occur because of injury or diseases that have genetic or other causes. Treatment depends on the condition you have. You may need medication, surgery or an implant. […] Many retinal diseases cause symptoms that affect your vision. Its important to find and treat diseases of the retina. Many of them can cause blindness or low vision if they arent treated. […] Symptoms of retinal diseases include: Eye floaters and flashes. Blurred or altered vision. Blind spots in your central or peripheral vision (vision to the sides of your central vision). Distortions in your vision (for example, straight lines appear crooked). Sudden loss of vision. Difficulty seeing at night or adjusting when the light changes. […] An eye care provider checks for disease with every eye exam, so its important to follow your providers suggestion on how often to get your eyes checked. The provider will dilate your eyes with eye drops to be able to see back to your retina. If the exam leads your provider to believe that there might be issues with your retina, they may do further testing or send you to a retina specialist.
- #7 Retinal diseases – Symptoms and causes – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825
Retinal diseases vary widely, but most of them cause visual symptoms. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] It’s important to pay attention to any changes in your vision and find care quickly. Seek immediate medical attention if you suddenly have floaters, flashes or reduced vision. These are warning signs of potentially serious retinal disease.
- #8 Retinal Diseases – Optometrists.orghttps://www.optometrists.org/general-practice-optometry/guide-to-eye-conditions/guide-to-retinal-diseases/retinal-diseases/
CRVO and BRVO are the second most common retinal vascular disease. […] Branch retinal vein occlusion usually causes a sudden loss of vision. […] If you have noticed any changes in your vision, schedule a comprehensive eye exam as soon as possible. Through a series of tests, your eye doctor can detect any signs of ocular disease even in its early stages. […] Caution: Seek immediate medical attention if you experience a sudden onset of floaters, flashes, or reduced vision.
- #9 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
To make a diagnosis, an ophthalmologist performs a thorough eye exam and looks for irregularities anywhere in the eye. […] The following tests may be done to find the location and extent of the disease: […] Amsler grid test. An eye professional may use an Amsler grid to test the clarity of your central vision. […] Optical coherence tomography (OCT). This test is an excellent technique for capturing precise images of the retina. […] Fundus autofluorescence (FAF). FAF may be used to determine the stage of retinal diseases, including macular degeneration. […] Fluorescein angiography. This test uses a dye that causes blood vessels in the retina to stand out under a special light. […] Indocyanine green angiography. This test uses a dye that lights up when exposed to infrared light. […] Ultrasound. This test uses high-frequency sound waves, called ultrasonography, to help view the retina and other structures in the eye.
- #10 Retinal Diseases: Types, Causes, Symptoms, Treatment, Outlookhttps://www.healthline.com/health/eye-health/retinal-diseases
Retinal diseases are the most common cause of blindness in lower income countries and the second most common cause in higher income countries. […] To diagnose retinal disease, an ophthalmologist (a doctor who specializes in eye conditions) usually asks about your personal and family medical history. They will then perform a comprehensive eye exam. […] Your doctor may also perform other tests such as genetic testing to look for gene changes linked to certain diseases. […] Retinal tears and detachment often require surgical repair. […] Its essential to seek medical attention if you notice changes in your vision. Your outlook is best when retinal diseases are treated early.
- #11 Retinal problems: Types, symptoms, and treatmentshttps://www.medicalnewstoday.com/articles/retinal-problems
To examine and diagnose eye conditions such as retinal disorders, ophthalmologists will typically first ask about the persons medical history. This allows them to look for factors that may affect their vision, such as underlying conditions. […] They will then perform a comprehensive eye exam with a particular focus on the retina and the macula. They will use a special instrument called an ophthalmoscope to investigate the inside of the eye. […] The ophthalmologist may use eye drops to widen (dilate) the pupil to see the inner eye better. They may also request an eye ultrasound and give numbing eye drops to prevent discomfort as they scan the eye. […] Ophthalmologists may also take images of the retina using optical coherence tomography (OCT) or a three-dimensional image of the blood flow in the eye using OCT angiography. They may also request dye tests such as fluorescein angiography to look for leakage in the blood vessels.
- #12 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
Indenting the surface of your eye. This surgery, called scleral (SKLAIR-ul) buckling, is used to repair a retinal detachment. […] Evacuating and replacing the fluid in the eye. In this procedure, called vitrectomy (vih-TREK-tuh-me), your surgeon removes the gel-like fluid that fills the inside of your eye, called the vitreous. […] Injecting medicine into the eye. Your eye doctor may suggest injecting medicine into the vitreous in the eye. […] Implanting a retinal prosthesis. People who have severe vision loss or blindness owing to certain inherited retinal disease may need surgery. […] To check for retinal disease, a dilated eye exam is usually necessary. Make an appointment with a doctor who specializes in eye care an optometrist or an ophthalmologist. He or she can perform a complete eye exam.
- #13 Macular Degeneration Disease Diagnosis | BrightFocus Foundationhttps://www.brightfocus.org/macular/diagnosis/
If you notice a change in your central vision, you should have your eyes checked by an ophthalmologist. […] To help diagnose macular degeneration, an ophthalmologist or optometrist will perform a comprehensive eye exam that may include the following tests: […] Fundus autofluorescence (FAF) is a noninvasive imaging technique that utilizes the bodys natural fluorescence to examine the retina. […] Doctors can use this technique to monitor the retinal pigment epithelium (RPE) and lipofuscin (pigment accumulating from the metabolic waste in the RPE) that emit light when exposed to specific wavelengths. […] The doctor dilates the pupils with eye drops to view the back of your retina. […] After dilating the pupil, the doctor aims a bright beam of light into the eye to check for problems.
- #14 Diseases of the retina – Knowledge @ AMBOSShttps://www.amboss.com/us/knowledge/diseases-of-the-retina/
The retina, which contains the first three neurons of the visual pathway, mediates the conversion of light stimuli into nerve impulses. Diseases of the retina may lead to visual impairment, visual field loss, and more complex disorders such as metamorphopsia (distorted vision) and clouding. Ophthalmoscopy is the preferred diagnostic method for identifying retinal diseases, but depending on the suspected disorder, other methods such as fluorescein angiography and optical coherence tomography (OCT) may be appropriate. […] Diagnostics: Ophthalmoscopy: roundish detachment of the central retina […] Diagnostics: Fluorescein angiography […] Diagnostics: Optical coherence tomography (OCT) […] Diagnostics: Fundoscopy […] Diagnostics: Perimetry […] Diagnostics: Electroretinography […] Diagnostics: Ophthalmoscopy (yellowish flecks in the area of the macula and atrophy of the pigment epithelium)
- #15 Recent advances in retinal imaging and diagnosticshttps://pmc.ncbi.nlm.nih.gov/articles/PMC7041830/
OCT diagnoses many subtle pathologies which may be missed during a clinical examination. […] Advances in retinal imaging have led to a paradigm change in diagnosis and management of retinal diseases. […] In future, use of new technologies like AI and DLS in screening programmes is likely to help identify several blinding retinal conditions and treat them at an early stage.
- #16 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
To make a diagnosis, an ophthalmologist performs a thorough eye exam and looks for irregularities anywhere in the eye. […] The following tests may be done to find the location and extent of the disease: […] Amsler grid test. An eye professional may use an Amsler grid to test the clarity of your central vision. […] Optical coherence tomography (OCT). This test is an excellent technique for capturing precise images of the retina. […] Fundus autofluorescence (FAF). FAF may be used to determine the stage of retinal diseases, including macular degeneration. […] Fluorescein angiography. This test uses a dye that causes blood vessels in the retina to stand out under a special light. […] Indocyanine green angiography. This test uses a dye that lights up when exposed to infrared light. […] Ultrasound. This test uses high-frequency sound waves, called ultrasonography, to help view the retina and other structures in the eye.
- #17 Recent advances in retinal imaging and diagnosticshttps://pmc.ncbi.nlm.nih.gov/articles/PMC7041830/
New imaging technologies like artificial intelligence and deep learning systems show a potential to screen populations at risk of retinal diseases at a large scale in a resource constrained setting. […] Retinal disorders are emerging as important causes of blindness in middle-income countries. […] Diabetic retinopathy (DR), retinopathy of prematurity (ROP) and age-related macular degeneration (ARMD) are the important retinal diseases of public health significance. […] Challenges to provision of screening in resource poor regions such as Asia include lack of specialists and lack of equipment. […] Retinal imaging devices and telemedicine can help address the rural-urban gap, as non-ophthalmologists can screen for retinal diseases to save the precious time of specialists. […] Optical coherence tomography (OCT) is equal to a histopathological section of a tissue.
- #18 Retina Diagnostic Tests and Tools | Assil Gaur Eye Los Angeleshttps://assileye.com/library/retina-diagnostic-tests
When you visit a retina specialist, there are a number of tests that your doctor might do in order to diagnose or monitor certain retinal conditions. […] Digital fundus photography is painless and non-invasive. After your eyes are dilated, youll be seated comfortably and asked to place your chin in a chin-rest on the camera. […] Fluorescein Angiography (FA) provides valuable diagnostic information needed to treat certain retinal conditions, like diabetic retinopathy and wet macular degeneration, among others. […] ICG angiography is important for diagnosing and treating diseases affecting the deep circulation of the eye. […] Optical coherence tomography (OCT) is one of the most common tests performed by a retinal specialist. […] Repeat OCT scans are frequently used to follow retinal conditions and their response to treatment over time.
- #19 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
Fluorescein and indocyanine green (ICG) angiography are eye tests that use special dyes that are excreted in your urine and an imaging system with a low-power safe laser to look at blood flow in the retina and choroid. […] The Retina Group of New York utilizes state-of-the-art diagnostic Spectral Domain Heidelberg Ocular Coherence Tomography (OCT) to obtain high-resolution images of the retina and underlying layers using low-power, safe, multicolor laser light through the pupil. High resolution images are obtained in seconds that are helpful in diagnosing and managing many conditions such as diabetic retinopathy, macular degeneration, retinal vein occlusions, cystoid macular edema and central serous retinopathy. […] Patients taking Plaquenil should have an early baseline assessment of visual acuity, macular appearance and central field sensitivity.
- #20 Diagnosis of retinal disorders from Optical Coherence Tomography images using CNNhttps://pmc.ncbi.nlm.nih.gov/articles/PMC8315505/
An efficient automatic decision support system for detection of retinal disorders is important and is the need of the hour. Optical Coherence Tomography (OCT) is the current imaging modality for the early detection of retinal disorders non-invasively. In this work, a Convolution Neural Network (CNN) model is proposed to classify three types of retinal disorders namely: Choroidal neovascularization (CNV), Drusen macular degeneration (DMD) and Diabetic macular edema (DME). The proposed architecture provides an accuracy of 97.01%, sensitivity of 93.43%, and 98.07% specificity and it outperformed other existing models, when compared. The proposed model can be used for the large-scale screening of retinal disorders effectively. […] Detecting retinal disorders at an early stage is used to prevent disease progression and vision loss.
- #21 Diagnosing Retinal Diseases NYC | New York Eye & Earhttps://www.nyee.edu/care/eye/retina/diagnosis
Diagnosing Retinal Diseases […] As a leading Center of Excellence for management of the most difficult cases of retinal disease, New York Eye and Ear Infirmary of Mount Sinai (NYEE) employs the most advanced imaging technologies available to ensure accurate and complete diagnoses. […] The latest diagnostic imaging technologies include the following: […] Spectral-Domain Optical Coherence Tomography (SD OCT) […] This rapid, noninvasive imaging technology is capable of producing cross-sectional images of the human retina with extremely high resolution (approximately six microns). […] Wide-Field Digital Fundus Photography […] Our imaging specialists employ the Optos and Spectralis, a high resolution, wide-field digital fundus camera, for examining and evaluating the periphery of the retina.
- #22 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
To make a diagnosis, an ophthalmologist performs a thorough eye exam and looks for irregularities anywhere in the eye. […] The following tests may be done to find the location and extent of the disease: […] Amsler grid test. An eye professional may use an Amsler grid to test the clarity of your central vision. […] Optical coherence tomography (OCT). This test is an excellent technique for capturing precise images of the retina. […] Fundus autofluorescence (FAF). FAF may be used to determine the stage of retinal diseases, including macular degeneration. […] Fluorescein angiography. This test uses a dye that causes blood vessels in the retina to stand out under a special light. […] Indocyanine green angiography. This test uses a dye that lights up when exposed to infrared light. […] Ultrasound. This test uses high-frequency sound waves, called ultrasonography, to help view the retina and other structures in the eye.
- #23 Diagnosing Retinal Diseases NYC | New York Eye & Earhttps://www.nyee.edu/care/eye/retina/diagnosis
Fluorescein (FA) and Indocyanine Green (ICG) Angiography […] This technique illuminates the retinal blood vessel using an intravenous injection of colored dye. […] Spectral Domain and Swept Source OCT Angiography […] This new high-resolution technique reveals the blood vessels at the capillary level in 3-dimensions using a non-invasive imaging method. […] Ultrasound […] For larger structures and in cases of opacity of the vitreous, ultrasound provides a non-invasive window into disorders of the retina, vitreous, and choroid. […] Electrophysiology […] Disorders in the electrical response of rod and cone photoreceptors to light stimulation are identified using full-field electoretinography, electrooculography, visually evoked potentials, and dark adaptometry. […] Computerized Amsler Grid
- #24 Diagnostic tests of the retina – Oftalvisthttps://www.oftalvist.es/en/eye-treatments/retina-and-macula-diagnosis
Angiography with contrast material is a diagnostic procedure for studying retinal vascularisation. […] You should see a specialist retinal ophthalmologist at least once a year. This specialist can carry out diagnostic examinations using advanced imaging technology (OCT) to prevent, manage and monitor your illness, should you be suffering from some disorder related to the retina, macula or vitreous humour.
- #25 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
Fluorescein and indocyanine green (ICG) angiography are eye tests that use special dyes that are excreted in your urine and an imaging system with a low-power safe laser to look at blood flow in the retina and choroid. […] The Retina Group of New York utilizes state-of-the-art diagnostic Spectral Domain Heidelberg Ocular Coherence Tomography (OCT) to obtain high-resolution images of the retina and underlying layers using low-power, safe, multicolor laser light through the pupil. High resolution images are obtained in seconds that are helpful in diagnosing and managing many conditions such as diabetic retinopathy, macular degeneration, retinal vein occlusions, cystoid macular edema and central serous retinopathy. […] Patients taking Plaquenil should have an early baseline assessment of visual acuity, macular appearance and central field sensitivity.
- #26 Paediatric retinal disease: A slow and steady evolution of diagnostics and treatmentshttps://europe.ophthalmologytimes.com/view/paediatric-retinal-disease-a-slow-and-steady-evolution-of-diagnostics-and-treatments
Improvements in diagnosis and treatment are slowly being made in paediatric retinal diseases, which historically have received less attention and funding than other areas in ophthalmology. […] The evolution of imaging in the clinic has facilitated a more precise diagnosis of the stage and zone of retinopathy of prematurity. […] Widefield imaging (WFI), which visualises the retina in most eyes almost to the ora serrata at the periphery of the sensory retina, was a major breakthrough in diagnostics. […] Wide-angle fluorescein angiography (FA), with the dye ingested, injected or performed under anesthesia, allows for the visualisation of retinal abnormalities and offers a better look at vascular anomalies that may not be visible during clinical evaluation. […] This has been a game changer for diagnosing/detecting conditions such as Coats disease and familial exudative vitreoretinopathy.
- #27 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
To make a diagnosis, an ophthalmologist performs a thorough eye exam and looks for irregularities anywhere in the eye. […] The following tests may be done to find the location and extent of the disease: […] Amsler grid test. An eye professional may use an Amsler grid to test the clarity of your central vision. […] Optical coherence tomography (OCT). This test is an excellent technique for capturing precise images of the retina. […] Fundus autofluorescence (FAF). FAF may be used to determine the stage of retinal diseases, including macular degeneration. […] Fluorescein angiography. This test uses a dye that causes blood vessels in the retina to stand out under a special light. […] Indocyanine green angiography. This test uses a dye that lights up when exposed to infrared light. […] Ultrasound. This test uses high-frequency sound waves, called ultrasonography, to help view the retina and other structures in the eye.
- #28 Retina Diagnostic Tests and Tools | Assil Gaur Eye Los Angeleshttps://assileye.com/library/retina-diagnostic-tests
When you visit a retina specialist, there are a number of tests that your doctor might do in order to diagnose or monitor certain retinal conditions. […] Digital fundus photography is painless and non-invasive. After your eyes are dilated, youll be seated comfortably and asked to place your chin in a chin-rest on the camera. […] Fluorescein Angiography (FA) provides valuable diagnostic information needed to treat certain retinal conditions, like diabetic retinopathy and wet macular degeneration, among others. […] ICG angiography is important for diagnosing and treating diseases affecting the deep circulation of the eye. […] Optical coherence tomography (OCT) is one of the most common tests performed by a retinal specialist. […] Repeat OCT scans are frequently used to follow retinal conditions and their response to treatment over time.
- #29 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
Fluorescein and indocyanine green (ICG) angiography are eye tests that use special dyes that are excreted in your urine and an imaging system with a low-power safe laser to look at blood flow in the retina and choroid. […] The Retina Group of New York utilizes state-of-the-art diagnostic Spectral Domain Heidelberg Ocular Coherence Tomography (OCT) to obtain high-resolution images of the retina and underlying layers using low-power, safe, multicolor laser light through the pupil. High resolution images are obtained in seconds that are helpful in diagnosing and managing many conditions such as diabetic retinopathy, macular degeneration, retinal vein occlusions, cystoid macular edema and central serous retinopathy. […] Patients taking Plaquenil should have an early baseline assessment of visual acuity, macular appearance and central field sensitivity.
- #30 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
To make a diagnosis, an ophthalmologist performs a thorough eye exam and looks for irregularities anywhere in the eye. […] The following tests may be done to find the location and extent of the disease: […] Amsler grid test. An eye professional may use an Amsler grid to test the clarity of your central vision. […] Optical coherence tomography (OCT). This test is an excellent technique for capturing precise images of the retina. […] Fundus autofluorescence (FAF). FAF may be used to determine the stage of retinal diseases, including macular degeneration. […] Fluorescein angiography. This test uses a dye that causes blood vessels in the retina to stand out under a special light. […] Indocyanine green angiography. This test uses a dye that lights up when exposed to infrared light. […] Ultrasound. This test uses high-frequency sound waves, called ultrasonography, to help view the retina and other structures in the eye.
- #31 Diagnostic tests of the retina – Oftalvisthttps://www.oftalvist.es/en/eye-treatments/retina-and-macula-diagnosis
To properly diagnose these and other disorders related to the retina, we need to perform exhaustive examinations of the eye fundus using sophisticated technology and specific tests in the modern consultation room of a ophthalmologist retinal and macular specialist, as this will usually enable us to detect said disorders early, some of which are the main causes of blindness in Spain. […] Early detection is essential in any of the retinal diseases, especially in those that carry a high risk of blindness. Preventive action, therefore, can avoid more serious problems, which is why it is essential that patients undergo annual examinations carried out by professionals and retina specialists. […] Autofluorescence imaging of the fundus of the eye is a non-invasive technique that provides detailed information about the occurrence and development of complex and hereditary retinal disorders, such as AMD. It provides information about the pathophysiology of the disorder and helps ophthalmologists to better understand the nature of macular and retinal disorders so they can make more accurate diagnoses.
- #32 Differential Diagnosis of Retinal Diseasehttps://www.reviewofoptometry.com/article/pathology-in-perspective-differential-diagnosis-of-retinal-disease
For example, in age-related macular degeneration, drusen as an early indicator for the disease shows subtle and varying degrees of hypo- or hyperautofluorescence, whereas the diseased retinal pigment epithelium (RPE) accumulating lipofuscin typically demonstrates hyperautofluorescence corresponding to the so-called vitelliform lesions. […] Both of these patients have vision-threatening lesions that require urgent or emergent referral for evaluation by an ocular oncologist, but only one of the lesions is life threatening. […] Correctly identifying an ocular mass as a choroidal melanoma instead of a choroidal hemangioma involves adequate counseling and coordination with your collaborating ocular oncologist. […] Choroidal melanomas (right) are the most common primary malignant intraocular tumor and they are missed or misdiagnosed daily.
- #33 Diagnosing Retinal Diseases NYC | New York Eye & Earhttps://www.nyee.edu/care/eye/retina/diagnosis
Fluorescein (FA) and Indocyanine Green (ICG) Angiography […] This technique illuminates the retinal blood vessel using an intravenous injection of colored dye. […] Spectral Domain and Swept Source OCT Angiography […] This new high-resolution technique reveals the blood vessels at the capillary level in 3-dimensions using a non-invasive imaging method. […] Ultrasound […] For larger structures and in cases of opacity of the vitreous, ultrasound provides a non-invasive window into disorders of the retina, vitreous, and choroid. […] Electrophysiology […] Disorders in the electrical response of rod and cone photoreceptors to light stimulation are identified using full-field electoretinography, electrooculography, visually evoked potentials, and dark adaptometry. […] Computerized Amsler Grid
- #34https://www.healio.com/news/ophthalmology/20120606/evolving-oct-technology-advances-diagnosis-treatment-of-retinal-disease
Its invaluable for diagnosing and monitoring retinal diseases these days. There are many diseases that are clinically invisible that you pick up with OCT. […] OCT plays an important but supporting role in diagnosing and managing wet AMD. […] OCT is a critical aspect of decision making in treatment of wet AMD. […] The reproducibility of images depends on precise registration of targeted areas. […] Intraoperative use of OCT is also gaining popularity. […] OCT biomicroscopy would improve long-term surveillance of disease progression. […] The CATT and subsequent studies have confirmed the efficacy of as-needed dosing based on OCT and other findings. […] SD-OCT is useful in evaluating cancer-associated retinopathy, non-neoplastic autoimmune retinopathy, and maculopathy associated with the use of hydroxychloroquine.
- #35 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
To make a diagnosis, an ophthalmologist performs a thorough eye exam and looks for irregularities anywhere in the eye. […] The following tests may be done to find the location and extent of the disease: […] Amsler grid test. An eye professional may use an Amsler grid to test the clarity of your central vision. […] Optical coherence tomography (OCT). This test is an excellent technique for capturing precise images of the retina. […] Fundus autofluorescence (FAF). FAF may be used to determine the stage of retinal diseases, including macular degeneration. […] Fluorescein angiography. This test uses a dye that causes blood vessels in the retina to stand out under a special light. […] Indocyanine green angiography. This test uses a dye that lights up when exposed to infrared light. […] Ultrasound. This test uses high-frequency sound waves, called ultrasonography, to help view the retina and other structures in the eye.
- #36 Retina Diagnostic Tests and Tools | Assil Gaur Eye Los Angeleshttps://assileye.com/library/retina-diagnostic-tests
The Heidelberg Scanning Laser OCT provides highly detailed, high-definition maps and images of the microscopic anatomy of the central retina (or macula) and other retinal structures, allowing us to make the most accurate diagnosis possible. […] Ocular ultrasound technology is used for imaging the anatomy of the eye when examining the inside of the eye by looking through the pupil is not possible.
- #37 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
The Amsler Grid test allows early detection of diseases affecting the macula. […] Color photographs of the eye help us document and follow many retinal problems. […] We look to see if defects or scotomas appear in the peripheral or central vision and how these change over time. […] Ophthalmic ultrasound is helpful in identifying and following certain types of eye conditions. […] Dark adaptometry is useful in the diagnosis and management of retinal degeneration, senile miosis, high myopia, vitamin A deficiency, and other night-blinding conditions. […] The mfERG has been well documented to aid in the diagnosis and monitoring of retinal disorders, hereditary diseases and drug toxicity.
- #38 Retinal diseases – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/diagnosis-treatment/drc-20355827
To make a diagnosis, an ophthalmologist performs a thorough eye exam and looks for irregularities anywhere in the eye. […] The following tests may be done to find the location and extent of the disease: […] Amsler grid test. An eye professional may use an Amsler grid to test the clarity of your central vision. […] Optical coherence tomography (OCT). This test is an excellent technique for capturing precise images of the retina. […] Fundus autofluorescence (FAF). FAF may be used to determine the stage of retinal diseases, including macular degeneration. […] Fluorescein angiography. This test uses a dye that causes blood vessels in the retina to stand out under a special light. […] Indocyanine green angiography. This test uses a dye that lights up when exposed to infrared light. […] Ultrasound. This test uses high-frequency sound waves, called ultrasonography, to help view the retina and other structures in the eye.
- #39 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
The Amsler Grid test allows early detection of diseases affecting the macula. […] Color photographs of the eye help us document and follow many retinal problems. […] We look to see if defects or scotomas appear in the peripheral or central vision and how these change over time. […] Ophthalmic ultrasound is helpful in identifying and following certain types of eye conditions. […] Dark adaptometry is useful in the diagnosis and management of retinal degeneration, senile miosis, high myopia, vitamin A deficiency, and other night-blinding conditions. […] The mfERG has been well documented to aid in the diagnosis and monitoring of retinal disorders, hereditary diseases and drug toxicity.
- #40 Diagnosing Retinal Diseases NYC | New York Eye & Earhttps://www.nyee.edu/care/eye/retina/diagnosis
New York Eye and Ear physicians have the most advanced form of Computerized Amsler Grid testing, the Preferential Hyperacuity Periperimery (PHP) instrument for detecting early age-related macular degeneration. […] Microperimetry […] Subtle visual losses can also be diagnosed non-invasively using high resolution visual testing of specific retinal features, or of designated locations on the macula. […] Oximetry […] Retinal oximetry is a new method for studying the metabolic function of the retina. […] Macular Pigment Density Testing […] Dietary pigments lutein and zeaxanthin, which are concentrated 1,000 times the level found in the blood within the retina, are critical to the health of the macula and may prevent damage due to metabolic stress, as in diabetes, or progression of age-related macular degeneration.
- #41 Diagnosing Retinal Diseases NYC | New York Eye & Earhttps://www.nyee.edu/care/eye/retina/diagnosis
Fluorescein (FA) and Indocyanine Green (ICG) Angiography […] This technique illuminates the retinal blood vessel using an intravenous injection of colored dye. […] Spectral Domain and Swept Source OCT Angiography […] This new high-resolution technique reveals the blood vessels at the capillary level in 3-dimensions using a non-invasive imaging method. […] Ultrasound […] For larger structures and in cases of opacity of the vitreous, ultrasound provides a non-invasive window into disorders of the retina, vitreous, and choroid. […] Electrophysiology […] Disorders in the electrical response of rod and cone photoreceptors to light stimulation are identified using full-field electoretinography, electrooculography, visually evoked potentials, and dark adaptometry. […] Computerized Amsler Grid
- #42 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
The Retina Group of New York utilizes state-of-the-art diagnostic equipment including OCT (Ocular Coherence Tomography), Fluorescein and ICG Angiography, Automated Visual Field testing, Digital Color Photography, ultrasound, Farnsworth-Monsell and Anomaloscopic Color Vision Testing, Dark Adaptometry, EOG (Electro-oculography), Multifocal (mfERG) and Ganzfeld ERG. We are capable of diagnosing all types of retinal conditions. […] An ERG is useful in evaluating both inherited (hereditary) and acquired disorders of the retina. […] The diagnoses most commonly suspected when ordering an ERG are predominantly conditions of the retina, including: Retinitis Pigmentosa. Retinitis Punctata Albescens. Retinitis Pigmentosa Sine Pigmento. Related Hereditary Retinal Degenerations. Disorders That Mimic Retinitis Pigmentosa. Leber’s Congenital Amaurosis. Choroideremia. Gyrate Atrophy Of The Choroid. Gyrate Atrophy Of The Retina. Goldman-favre Syndrome. Congenital Stationary Night Blindness. X-linked Juvenile Retinoschisis. Achromatopsia. Cone Dystrophies. Usher Syndrome.
- #43 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
The Retina Group of New York utilizes state-of-the-art diagnostic equipment including OCT (Ocular Coherence Tomography), Fluorescein and ICG Angiography, Automated Visual Field testing, Digital Color Photography, ultrasound, Farnsworth-Monsell and Anomaloscopic Color Vision Testing, Dark Adaptometry, EOG (Electro-oculography), Multifocal (mfERG) and Ganzfeld ERG. We are capable of diagnosing all types of retinal conditions. […] An ERG is useful in evaluating both inherited (hereditary) and acquired disorders of the retina. […] The diagnoses most commonly suspected when ordering an ERG are predominantly conditions of the retina, including: Retinitis Pigmentosa. Retinitis Punctata Albescens. Retinitis Pigmentosa Sine Pigmento. Related Hereditary Retinal Degenerations. Disorders That Mimic Retinitis Pigmentosa. Leber’s Congenital Amaurosis. Choroideremia. Gyrate Atrophy Of The Choroid. Gyrate Atrophy Of The Retina. Goldman-favre Syndrome. Congenital Stationary Night Blindness. X-linked Juvenile Retinoschisis. Achromatopsia. Cone Dystrophies. Usher Syndrome.
- #44 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
The Amsler Grid test allows early detection of diseases affecting the macula. […] Color photographs of the eye help us document and follow many retinal problems. […] We look to see if defects or scotomas appear in the peripheral or central vision and how these change over time. […] Ophthalmic ultrasound is helpful in identifying and following certain types of eye conditions. […] Dark adaptometry is useful in the diagnosis and management of retinal degeneration, senile miosis, high myopia, vitamin A deficiency, and other night-blinding conditions. […] The mfERG has been well documented to aid in the diagnosis and monitoring of retinal disorders, hereditary diseases and drug toxicity.
- #45 Retina Diagnostic Tests | Retina Group of New Yorkhttps://rgony.com/retina-diagnostic-tests
The Amsler Grid test allows early detection of diseases affecting the macula. […] Color photographs of the eye help us document and follow many retinal problems. […] We look to see if defects or scotomas appear in the peripheral or central vision and how these change over time. […] Ophthalmic ultrasound is helpful in identifying and following certain types of eye conditions. […] Dark adaptometry is useful in the diagnosis and management of retinal degeneration, senile miosis, high myopia, vitamin A deficiency, and other night-blinding conditions. […] The mfERG has been well documented to aid in the diagnosis and monitoring of retinal disorders, hereditary diseases and drug toxicity.
- #46 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. […] Because of the phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy-based treatments and ongoing clinical studies. […] Therefore, molecular genetic testing has become an important strategy to complement clinical findings and confirm or clarify a diagnosis. […] The American Academy of Ophthalmology Task Force on Genetic Testing and the European Reference Network for Rare Eye Diseases recommend genetic testing for all individuals with presumed or suspected IRDs for which a causative gene or genes have been identified.
- #47 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. […] Because of the phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy-based treatments and ongoing clinical studies. […] Therefore, molecular genetic testing has become an important strategy to complement clinical findings and confirm or clarify a diagnosis. […] The American Academy of Ophthalmology Task Force on Genetic Testing and the European Reference Network for Rare Eye Diseases recommend genetic testing for all individuals with presumed or suspected IRDs for which a causative gene or genes have been identified.
- #48 Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers â Foundation Fighting Blindnesshttps://www.fightingblindness.org/genetic-testing-for-retinal-degenerative-diseases-information-and-resources-for-affected-individuals-families-and-health-care-providers
Most rare retinal degenerative diseases (RDDs) – including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia – are inherited and usually caused by one or more defects (mutations) in a single gene. […] Genetic testing is now available to attempt to identify the defective gene causing the RDD in an individual or family. […] There are potential benefits to knowing the underlying genetic cause of a persons RDD: It may help confirm or refine a diagnosis. […] Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. […] Knowing the mutated gene can guide the testing of family members to identify those at risk of inheriting the condition. […] Knowing the genetic defect may help people qualify for clinical trials and inform them about which future therapies may be of benefit.
- #49 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
Genetic testing also allows for accurate identification of inheritance pattern, thereby improving genetic counseling for affected individuals and their families. […] Additionally, with an approved retinal gene therapy for biallelic RPE65 mutation-associated retinal dystrophy, Luxturna (voretigene neparvovec-rzyl), confirming a molecular diagnosis through genetic testing may help individuals access the latest treatment options or qualify for study participation. […] When a person has been clinically diagnosed with a presumed IRD, diagnostic genetic testing is indicated. […] If an individual is asymptomatic but a disease-causing molecular variant has previously been confirmed in a family member, genetic testing can be used for predictive testing or carrier testing. […] Genetic tests can assess single genes or, more commonly, panels of genes associated with a group of genetic diseases.
- #50 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
While traditional single-gene sequencing may be sufficient for diagnosing IRDs with mostly only one disease-associated gene identified, such as congenital aniridia (PAX6 gene), systematic testing of single genes may be inefficient for diagnosing more complex IRDs that have a high degree of genetic heterogeneity, such as retinitis pigmentosa (100 identified causative genes). […] In the processing of genetic test results, identified variants are analyzed to determine their potential association with an IRD phenotype. […] Genetic variant interpretation, as defined by the American College of Medical Genetics, is classified using a 5-class system. […] Processing of genetic findings should always be done in the context of the clinical phenotype. […] Accurate interpretation of genetic test results is very important and helps health care providers advise individuals about their prognosis and provide more clarity about how an eye disease is inherited.
- #51 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
While traditional single-gene sequencing may be sufficient for diagnosing IRDs with mostly only one disease-associated gene identified, such as congenital aniridia (PAX6 gene), systematic testing of single genes may be inefficient for diagnosing more complex IRDs that have a high degree of genetic heterogeneity, such as retinitis pigmentosa (100 identified causative genes). […] In the processing of genetic test results, identified variants are analyzed to determine their potential association with an IRD phenotype. […] Genetic variant interpretation, as defined by the American College of Medical Genetics, is classified using a 5-class system. […] Processing of genetic findings should always be done in the context of the clinical phenotype. […] Accurate interpretation of genetic test results is very important and helps health care providers advise individuals about their prognosis and provide more clarity about how an eye disease is inherited.
- #52 Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers â Foundation Fighting Blindnesshttps://www.fightingblindness.org/genetic-testing-for-retinal-degenerative-diseases-information-and-resources-for-affected-individuals-families-and-health-care-providers
The decision to undergo genetic testing should not be made lightly. […] Anyone interested in a genetic test is strongly advised to talk to a genetic counselor or retinal physician who is knowledgeable about the genetic testing process and the potential impacts of the results, before they decide to undertake the test. […] Genetic counseling is a critical part of the genetic testing process. […] Genetic counseling guides patients and families toward a clearer understanding of the limitations and benefits of genetic testing as well as the interpretation of test results. […] Genetic testing is the process of determining the sequence (or spelling) of a persons genes in an effort to determine the presence or absence of a disease-causing gene mutation. […] It is important to realize that although genetic testing is available its possible an individuals genetic mutation will not be successfully identified by current testing.
- #53 The Ins and Outs of Genetic Testing for Inherited Retinal Diseases – Retina Todayhttps://retinatoday.com/articles/2021-july-aug/the-ins-and-outs-of-genetic-testing-for-inherited-retinal-diseases
Several nonprofit organizations and industry leaders have come together to provide free genetic testing programs for patients with an inherited retinal disease (IRD) diagnosis, including The Foundation Fighting Blindness My Retina Tracker program and the ID Your IRD program, developed in collaboration with Invitae. […] Patients and their parents must understand their genetic status to make informed decisions about clinical trial opportunities and participation. […] Genetic testing to determine the specific mutation that causes a patients IRD has not been broadly used. […] Genetic testing is only the first step for patients with an IRD to become informed about their genetic status and related implications for clinical trial participation and therapeutic decisions. […] Genetic counseling is an essential component of genetic testing, and it is recommended that a genetic counselor be identified prior to undergoing testing to ensure that patients have access to an appropriate resource to help them understand their test results and discuss potential next steps.
- #54 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
As the number of genes commercially available for sequencing increases and the use of genetic sequencing processes becomes more widespread, accurate interpretation of the results from these tests is critical. […] On the basis of findings from the genetic test, counselors will also advise on the implications of results for at-risk family members, offer appropriate screening or preventative strategies, and educate on other potential health or lifestyle effects. […] Despite the complexity of genetic tests and their practical limitations, it is necessary to overcome these barriers to ensure that the best medical care is provided for individuals affected by IRDs. […] The American Academy of Ophthalmology recommendations for the genetic testing of IRDs state that whenever clinical findings suggest the possibility for an IRD for which a causative gene or genes have been identified, the treating ophthalmologist should either discuss the value of genetic testing and order an appropriate test (if available) or refer the individual to an IRD specialist or ocular genetic counselor with expertise in the selection and interpretation of molecular tests.
- #55 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
Genetic testing also allows for accurate identification of inheritance pattern, thereby improving genetic counseling for affected individuals and their families. […] Additionally, with an approved retinal gene therapy for biallelic RPE65 mutation-associated retinal dystrophy, Luxturna (voretigene neparvovec-rzyl), confirming a molecular diagnosis through genetic testing may help individuals access the latest treatment options or qualify for study participation. […] When a person has been clinically diagnosed with a presumed IRD, diagnostic genetic testing is indicated. […] If an individual is asymptomatic but a disease-causing molecular variant has previously been confirmed in a family member, genetic testing can be used for predictive testing or carrier testing. […] Genetic tests can assess single genes or, more commonly, panels of genes associated with a group of genetic diseases.
- #56 Retinitis Pigmentosa (RP): Diagnosis, Symptoms & Treatmenthttps://my.clevelandclinic.org/health/diseases/17429-retinitis-pigmentosa
Electroretinography is a test that measures your retinas response to light. It checks the function of different retinal cells. Your healthcare provider will flash lights in front of your eyes to measure your retinas activity. […] Optical coherence tomography (OCT) is a noninvasive test that can measure the thickness of your retina and analyze the retinal integrity. […] This type of imaging test is noninvasive and can reveal information about the health of your retinas. Its used for diagnosis, treatment and monitoring. […] A lot of advances have been made in recent years in the field of RP and IRDs including the introduction of gene therapy. […] The FDA has approved voretigene neparvovec-ryzl (Luxturna), a gene therapy product to treat a specific type of retinitis pigmentosa. […] There are ongoing clinical trials for gene therapy for the other types of RP and IRDs. […] Appropriate genetic testing and counseling are important for anybody diagnosed with retinitis pigmentosa.
- #57 Retinitis Pigmentosa (RP): Diagnosis, Symptoms & Treatmenthttps://my.clevelandclinic.org/health/diseases/17429-retinitis-pigmentosa
Retinitis pigmentosa (RP) is the term for a group of inherited eye diseases (IRDs) that affect the retina. […] If you are diagnosed with RP or IRD, its important to obtain genetic testing that can sometimes determine the exact mutation causing the disease. Genetic testing is done with a specifically trained genetic counselor who can help with the ordering and interpretation of the test. Identifying the mutation is important because it can provide insight into how the disease may progress and how other family members may be affected. It also might qualify you to receive gene therapy or participate in a gene therapy clinical trial. […] Its important to schedule and keep regular eye examinations. If your healthcare provider thinks you may have retinitis pigmentosa, they will use some or all of the following tests to make their diagnosis. They may also suggest genetic testing and/or counseling.
- #58 Artificial Intelligence for the Diagnosis and Screening of Retinal Diseases – touchOPHTHALMOLOGYhttps://touchophthalmology.com/artificial-intelligence/journal-articles/artificial-intelligence-for-the-diagnosis-and-screening-of-retinal-diseases/
Artificial intelligence (AI) is becoming established as a new method for analysing ophthalmological data, and unveiling new clinical and pathogenic insights into retinal diseases. AI-based algorithms are largely employed in the field of the most prevalent retinal diseases, including diabetic retinopathy, age-related macular degeneration and myopia. […] AI models are mainly used in screening of the fundus and structural optical coherence tomography images. However, more advanced methodologies are under investigation to extract clinically relevant information regarding the biomarkers of disease activity and outcome measures. AI is a powerful tool for increasing the amount of information obtained in clinical and research contexts. […] AI algorithms have been highly effective in screening for retinopathies.
- #59 Artificial Intelligence for the Diagnosis and Screening of Retinal Diseases – touchOPHTHALMOLOGYhttps://touchophthalmology.com/artificial-intelligence/journal-articles/artificial-intelligence-for-the-diagnosis-and-screening-of-retinal-diseases/
Future efforts should focus on developing data quality checks and validating methodologies to reliably assess the contribution of AI-based models in clinical and research settings. […] AI models should recognize DR-related alterations, such as haemorrhages, exudates, cotton wool spots and neovascularization; and, starting from fundus images, establish the presence or absence of DR, and grade it according to the conventional DR grading scales. […] The IDx-DR system was also tested in the Messidor-2 dataset (ADCIS, Saint-Contest, France) which was established to facilitate the testing of computer-assisted diagnosis of DR including fundus images of 1,748 eyes (874 patients), with a sensitivity of 97% and a specificity of 59%. […] The RetmarkerDR software (Critical Health SA, Coimbra, Portugal) is a Conformit Europene-marked class IIa medical device capable of distinguishing DR from non-DR eyes and measuring the microaneurysm turnover rate during follow-up.
- #60 Artificial Intelligence for the Diagnosis and Screening of Retinal Diseases – touchOPHTHALMOLOGYhttps://touchophthalmology.com/artificial-intelligence/journal-articles/artificial-intelligence-for-the-diagnosis-and-screening-of-retinal-diseases/
Future efforts should focus on developing data quality checks and validating methodologies to reliably assess the contribution of AI-based models in clinical and research settings. […] AI models should recognize DR-related alterations, such as haemorrhages, exudates, cotton wool spots and neovascularization; and, starting from fundus images, establish the presence or absence of DR, and grade it according to the conventional DR grading scales. […] The IDx-DR system was also tested in the Messidor-2 dataset (ADCIS, Saint-Contest, France) which was established to facilitate the testing of computer-assisted diagnosis of DR including fundus images of 1,748 eyes (874 patients), with a sensitivity of 97% and a specificity of 59%. […] The RetmarkerDR software (Critical Health SA, Coimbra, Portugal) is a Conformit Europene-marked class IIa medical device capable of distinguishing DR from non-DR eyes and measuring the microaneurysm turnover rate during follow-up.
- #61 Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseaseshttps://www.mdpi.com/1648-9144/60/4/527
AI-based DR screening systems aim to reduce costs and improve patient access to screening. These systems utilize algorithms to detect early signs of DR from color fundus photography. […] The IDx-DR (Idx, Iowa City, IA, USA) was the first AI system approved by the Food and Drug Administration for the detection of DR. […] In Europe, the EyeArt (EyeNuk Inc., Woodland Hills, CA, USA) and Retmarker (Retmarker Ltd., Voimbra, Portugal) systems are approved as AI-based class IIa medical devices to assist in DR screening. […] AI-driven methodologies have also been used to distinguish geographic atrophy from conditions that mimic AMD, such as extensive macular atrophy with pseudodrusen-like appearance (EMAP), a severe and rapidly progressive form of macular degeneration predominantly affecting middle-aged individuals.
- #62 Artificial Intelligence for the Diagnosis and Screening of Retinal Diseases – touchOPHTHALMOLOGYhttps://touchophthalmology.com/artificial-intelligence/journal-articles/artificial-intelligence-for-the-diagnosis-and-screening-of-retinal-diseases/
Age-related macular degeneration (AMD) represents another leading cause of visual impairment in developed countries and a major target for AI-based approaches. […] Many unsupervised AI-based segmentation algorithms have been developed, providing very high performance in detecting retinal features. […] AI has facilitated further progress in the AMD field, helping to assess treatment responses and factors predicting visual outcome. […] AI has been employed for the prediction of myopia progression and calculation of the risk of developing high or even pathological myopia. […] AI has been tested in inherited retinal dystrophies to segment retinal structures on OCT, to detect atrophic changes and to follow all these alterations over time. […] The diagnostic improvement of ROP provided by AI models could allow earlier identification and prompt treatment, which would reduce the impact on visual function and improve patients quality of life. […] The current article provides an up-to-date review of AI-based technologies in retinopathies. AI has huge potential to improve the diagnostic work-up and management of retinopathies.
- #63 Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseaseshttps://www.mdpi.com/1648-9144/60/4/527
AI-based DR screening systems aim to reduce costs and improve patient access to screening. These systems utilize algorithms to detect early signs of DR from color fundus photography. […] The IDx-DR (Idx, Iowa City, IA, USA) was the first AI system approved by the Food and Drug Administration for the detection of DR. […] In Europe, the EyeArt (EyeNuk Inc., Woodland Hills, CA, USA) and Retmarker (Retmarker Ltd., Voimbra, Portugal) systems are approved as AI-based class IIa medical devices to assist in DR screening. […] AI-driven methodologies have also been used to distinguish geographic atrophy from conditions that mimic AMD, such as extensive macular atrophy with pseudodrusen-like appearance (EMAP), a severe and rapidly progressive form of macular degeneration predominantly affecting middle-aged individuals.
- #64 Diagnosis of retinal disorders from Optical Coherence Tomography images using CNNhttps://pmc.ncbi.nlm.nih.gov/articles/PMC8315505/
An efficient automatic decision support system for detection of retinal disorders is important and is the need of the hour. Optical Coherence Tomography (OCT) is the current imaging modality for the early detection of retinal disorders non-invasively. In this work, a Convolution Neural Network (CNN) model is proposed to classify three types of retinal disorders namely: Choroidal neovascularization (CNV), Drusen macular degeneration (DMD) and Diabetic macular edema (DME). The proposed architecture provides an accuracy of 97.01%, sensitivity of 93.43%, and 98.07% specificity and it outperformed other existing models, when compared. The proposed model can be used for the large-scale screening of retinal disorders effectively. […] Detecting retinal disorders at an early stage is used to prevent disease progression and vision loss.
- #65 Diagnosis of retinal disorders from Optical Coherence Tomography images using CNN | PLOS Onehttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0254180
Diagnosis of retinal disorders from Optical Coherence Tomography images using CNN […] An efficient automatic decision support system for detection of retinal disorders is important and is the need of the hour. Optical Coherence Tomography (OCT) is the current imaging modality for the early detection of retinal disorders non-invasively. In this work, a Convolution Neural Network (CNN) model is proposed to classify three types of retinal disorders namely: Choroidal neovascularization (CNV), Drusen macular degeneration (DMD) and Diabetic macular edema (DME). The proposed architecture provides an accuracy of 97.01%, sensitivity of 93.43%, and 98.07% specificity and it outperformed other existing models, when compared. The proposed model can be used for the large-scale screening of retinal disorders effectively.
- #66 Diagnosis of retinal disorders from Optical Coherence Tomography images using CNN | PLOS Onehttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0254180
Detecting retinal disorders at an early stage is used to prevent disease progression and vision loss. An ophthalmologist uses two major imaging modalities, namely color fundus imaging and OCT. The OCT is a non-invasive imaging modality mainly used in ophthalmology to visualize retinal layers. Information about all the retina layers can be inferred from OCT images, useful in detecting and diagnosing retinal disorders. Early detection of retinal disorders can be done effectively using OCT compared to fundus photography. […] Retinal disorders are detected and diagnosed by performing retinal layer segmentation and thickness measurement in the retinal OCT image. The retinal layers changes due to any disorder were not common, and fixing a specific benchmark process is impossible for analyzing the data. Standard image processing algorithms for retinal layer abnormality detection have some difficulties, such as time-consuming, sufficient domain knowledge.
- #67 Automated diagnosis of retinal disease | Ophthalmology Managementhttps://ophthalmologymanagement.com/issues/2021/september/automated-diagnosis-of-retinal-disease/
We also now have a growing knowledge base for gold standard algorithm development (as recounted in a 2018 Ophthalmology paper on using automated algorithms for DR grading, by Krause et al). But, it seems safe to say that these technologies are far from widespread, and adoption has been tentative. Furthermore, we have seen little progress on AI providing meaningful assistance to physicians in the clinic setting. So, what are the challenges that the use of AI for retinal diagnosis faces today? […] A significant limiting factor in making AI detection of less common diseases is the number of training images available for the machine learning algorithms to reach high accuracy. Images for DR are common, especially in large publicly available data sets. However, images of more rare conditions are much more difficult to obtain in the numbers needed to train an algorithm successfully and accurately. This is especially critical when looking at important, vision-threatening or rare issues (eg, papilledema, retinal detachment or intraocular tumor) in the screening population. This is a major problem in algorithm development, limiting a comprehensive AI solution for retinal diagnosis.
- #68 Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseaseshttps://www.mdpi.com/1648-9144/60/4/527
The International Classification of ROP (ICROP) currently classifies ROP as a âPlusâ disease, severe ROP that requires prompt treatment, and a âPre-plusâ disease, a less severe form of the disease. […] Retinal vein occlusion (RVO) ranks as the second most common retinal vascular disease after diabetic retinopathy. […] In the recent literature, many AI-based systems have been tested to effectively screen and grade patients with hypertensive retinopathy (HR). […] Retinitis Pigmentosa (RP), or rodâcone dystrophy, is the most common inherited retinal disorder, characterized by the progressive atrophy of rod photoreceptors followed by secondary degeneration of cones. […] Recent AI approaches applied to Stargardt disease primarily leverage fundus autofluorescence (FAF) and OCT scans. […] Innovations in AI have shown promise in enhancing the diagnostic accuracy for SCD-related ocular conditions. […] One of the major challenges in using AI for disease diagnosis is the âblack box phenomenonâ. […] The collaborative synergy between AI and clinicians optimizes diagnostic precision, leading to improved patient outcomes.
- #69 Artificial Intelligence for the Diagnosis and Screening of Retinal Diseases – touchOPHTHALMOLOGYhttps://touchophthalmology.com/artificial-intelligence/journal-articles/artificial-intelligence-for-the-diagnosis-and-screening-of-retinal-diseases/
Future efforts should focus on developing data quality checks and validating methodologies to reliably assess the contribution of AI-based models in clinical and research settings. […] AI models should recognize DR-related alterations, such as haemorrhages, exudates, cotton wool spots and neovascularization; and, starting from fundus images, establish the presence or absence of DR, and grade it according to the conventional DR grading scales. […] The IDx-DR system was also tested in the Messidor-2 dataset (ADCIS, Saint-Contest, France) which was established to facilitate the testing of computer-assisted diagnosis of DR including fundus images of 1,748 eyes (874 patients), with a sensitivity of 97% and a specificity of 59%. […] The RetmarkerDR software (Critical Health SA, Coimbra, Portugal) is a Conformit Europene-marked class IIa medical device capable of distinguishing DR from non-DR eyes and measuring the microaneurysm turnover rate during follow-up.
- #70 Retinal Diseases – Optometrists.orghttps://www.optometrists.org/general-practice-optometry/guide-to-eye-conditions/guide-to-retinal-diseases/retinal-diseases/
Retinal diseases cause damage to any part of the retina. Untreated retinal diseases can lead to severe vision loss and even blindness. With early detection, some retinal diseases can be treated, while others can be controlled or slowed down to preserve, or even restore vision. […] If you experience symptoms of retinal disease contact an eye doctor to diagnose and manage your condition. […] Retinal detachments affect 5 in 100,000 people, annually. […] Diabetic retinopathy is a serious sight-threatening complication of diabetes that can lead to blindness. […] 95% of people with diabetic retinopathy can avoid severe vision loss with early treatment. […] Research has shown that ERM affects up to 2 percent of patients over age 50 and 20 percent over age 75. […] RP is one of the most frequently occurring forms of inherited retinal degeneration.
- #71 How Your Retinal Specialist Diagnoses Retinal Diseases | Arizona Retinal Specialistshttps://www.arizonaretinalspecialists.com/blog/how-your-retinal-specialist-diagnoses-retinal-diseases/
The retina is a light-sensitive layer of tissue at the back of your eye. […] A variety of damage to the retina can result in a broad spectrum of retinal diseases. […] In the vernacular of ophthalmology, retina disease is called retinopathy. […] Having a complete examination of the retina is something everyone should have, especially those who are 40 and older and have diabetes. […] To diagnose diabetic retinopathy, an ophthalmologist or retinal specialist commonly uses a dilated eye exam. […] A retinal specialist, when undertaking an examination of a patient who has been diagnosed with diabetes, will look for one or more of the following signs: microaneurysm, intraretinal hemorrhages, cotton-wool spots (CWS), hard exudates, intraretinal microvascular anomalies (IRMA), venous beading.
- #72 How Your Retinal Specialist Diagnoses Retinal Diseases | Arizona Retinal Specialistshttps://www.arizonaretinalspecialists.com/blog/how-your-retinal-specialist-diagnoses-retinal-diseases/
The retina is a light-sensitive layer of tissue at the back of your eye. […] A variety of damage to the retina can result in a broad spectrum of retinal diseases. […] In the vernacular of ophthalmology, retina disease is called retinopathy. […] Having a complete examination of the retina is something everyone should have, especially those who are 40 and older and have diabetes. […] To diagnose diabetic retinopathy, an ophthalmologist or retinal specialist commonly uses a dilated eye exam. […] A retinal specialist, when undertaking an examination of a patient who has been diagnosed with diabetes, will look for one or more of the following signs: microaneurysm, intraretinal hemorrhages, cotton-wool spots (CWS), hard exudates, intraretinal microvascular anomalies (IRMA), venous beading.
- #73 How Your Retinal Specialist Diagnoses Retinal Diseases | Arizona Retinal Specialistshttps://www.arizonaretinalspecialists.com/blog/how-your-retinal-specialist-diagnoses-retinal-diseases/
The hallmark of DR is the development of microaneurysms, which are small dilations of the capillaries due to their weakening walls. […] Often microaneurysms and dot hemorrhages are indistinguishable. […] Your retinal specialist may also use a non-invasive diagnostic tool called Optical coherence tomography (OCT). […] Capillary wall damage will lead to leakage of fluids that accumulate in the retina producing macular edema, which are thickening areas of the retina. […] As diabetic retinopathy progresses, there will be further damage to the capillaries, leading to progressive ischemia (restriction in blood supply). […] The last sign of non-proliferative diabetic retinopathy is venous beading, a succession of constrictions and thickenings of the vein walls and causing significant ischemia.
- #74 How Your Retinal Specialist Diagnoses Retinal Diseases | Arizona Retinal Specialistshttps://www.arizonaretinalspecialists.com/blog/how-your-retinal-specialist-diagnoses-retinal-diseases/
The retina is a light-sensitive layer of tissue at the back of your eye. […] A variety of damage to the retina can result in a broad spectrum of retinal diseases. […] In the vernacular of ophthalmology, retina disease is called retinopathy. […] Having a complete examination of the retina is something everyone should have, especially those who are 40 and older and have diabetes. […] To diagnose diabetic retinopathy, an ophthalmologist or retinal specialist commonly uses a dilated eye exam. […] A retinal specialist, when undertaking an examination of a patient who has been diagnosed with diabetes, will look for one or more of the following signs: microaneurysm, intraretinal hemorrhages, cotton-wool spots (CWS), hard exudates, intraretinal microvascular anomalies (IRMA), venous beading.
- #75 How Your Retinal Specialist Diagnoses Retinal Diseases | Arizona Retinal Specialistshttps://www.arizonaretinalspecialists.com/blog/how-your-retinal-specialist-diagnoses-retinal-diseases/
The hallmark of DR is the development of microaneurysms, which are small dilations of the capillaries due to their weakening walls. […] Often microaneurysms and dot hemorrhages are indistinguishable. […] Your retinal specialist may also use a non-invasive diagnostic tool called Optical coherence tomography (OCT). […] Capillary wall damage will lead to leakage of fluids that accumulate in the retina producing macular edema, which are thickening areas of the retina. […] As diabetic retinopathy progresses, there will be further damage to the capillaries, leading to progressive ischemia (restriction in blood supply). […] The last sign of non-proliferative diabetic retinopathy is venous beading, a succession of constrictions and thickenings of the vein walls and causing significant ischemia.
- #76 How Your Retinal Specialist Diagnoses Retinal Diseases | Arizona Retinal Specialistshttps://www.arizonaretinalspecialists.com/blog/how-your-retinal-specialist-diagnoses-retinal-diseases/
Proliferative diabetic retinopathy (PDR) occurs as a progression of severe diabetic vascular damage. […] Severe non-proliferative diabetic retinopathy is the precursor of proliferative diabetic retinopathy. […] Diabetic macular edema (DME) is the leading cause of visual loss in diabetic patients. […] Diabetic macular edema is diagnosed with a detailed bio-microscopic examination with the slit lamp and indirect ophthalmoscopy.
- #77 Macular Degeneration Disease Diagnosis | BrightFocus Foundationhttps://www.brightfocus.org/macular/diagnosis/
If you notice a change in your central vision, you should have your eyes checked by an ophthalmologist. […] To help diagnose macular degeneration, an ophthalmologist or optometrist will perform a comprehensive eye exam that may include the following tests: […] Fundus autofluorescence (FAF) is a noninvasive imaging technique that utilizes the bodys natural fluorescence to examine the retina. […] Doctors can use this technique to monitor the retinal pigment epithelium (RPE) and lipofuscin (pigment accumulating from the metabolic waste in the RPE) that emit light when exposed to specific wavelengths. […] The doctor dilates the pupils with eye drops to view the back of your retina. […] After dilating the pupil, the doctor aims a bright beam of light into the eye to check for problems.
- #78https://www.eyecaresuperior.com/detecting-retinal-diseases-through-eye-exams5595172b
Eye exams go beyond reading letters on a chart. They can uncover important details about your eye health, such as spotting retinal diseases. […] Different imaging techniques, like OCT, fluorescein and Indocyanine Green Angiography, and blue laser fundus autofluorescence, offer eye care experts crucial information about conditions like macular degeneration and diabetes. […] Age-related macular degeneration (AMD) can be detected through routine eye exams. The exams involve retinal imaging to check for fluid retention and swelling in the retina. These tests help identify early signs of changes that may indicate AMD, leading to blurry central vision as it affects the macula. […] Another method for detecting AMD is fluorescein angiography. In this procedure, dye is injected into a vein to highlight any leakage of fluid from blood vessels in the retina, a common occurrence in AMD.
- #79 Macular Degeneration Disease Diagnosis | BrightFocus Foundationhttps://www.brightfocus.org/macular/diagnosis/
If you notice a change in your central vision, you should have your eyes checked by an ophthalmologist. […] To help diagnose macular degeneration, an ophthalmologist or optometrist will perform a comprehensive eye exam that may include the following tests: […] Fundus autofluorescence (FAF) is a noninvasive imaging technique that utilizes the bodys natural fluorescence to examine the retina. […] Doctors can use this technique to monitor the retinal pigment epithelium (RPE) and lipofuscin (pigment accumulating from the metabolic waste in the RPE) that emit light when exposed to specific wavelengths. […] The doctor dilates the pupils with eye drops to view the back of your retina. […] After dilating the pupil, the doctor aims a bright beam of light into the eye to check for problems.
- #80 Macular Degeneration Disease Diagnosis | BrightFocus Foundationhttps://www.brightfocus.org/macular/diagnosis/
This test measures your sight from various distances. […] After dilating the pupil, the doctor focuses light through the cornea, pupil, and lens. […] If your doctor suspects you may have wet AMD, they may conduct this test to detect leaking blood vessels. […] OCT is a noninvasive technique to image the retina. […] The Amsler grid can help detect early signs of retinal disease and monitor vision changes after a macular degeneration diagnosis. […] The ForeseeHome Monitor is the first FDA-cleared device for patients with dry macular degeneration to monitor the disease at home. […] If you have early macular degeneration and a minimal number and size of drusen, your doctor may advise that you take certain antioxidant vitamins. […] Lifestyle modifications can also reduce the risk of AMD progression.
- #81 Macular Degeneration Disease Diagnosis | BrightFocus Foundationhttps://www.brightfocus.org/macular/diagnosis/
This test measures your sight from various distances. […] After dilating the pupil, the doctor focuses light through the cornea, pupil, and lens. […] If your doctor suspects you may have wet AMD, they may conduct this test to detect leaking blood vessels. […] OCT is a noninvasive technique to image the retina. […] The Amsler grid can help detect early signs of retinal disease and monitor vision changes after a macular degeneration diagnosis. […] The ForeseeHome Monitor is the first FDA-cleared device for patients with dry macular degeneration to monitor the disease at home. […] If you have early macular degeneration and a minimal number and size of drusen, your doctor may advise that you take certain antioxidant vitamins. […] Lifestyle modifications can also reduce the risk of AMD progression.
- #82 Retinitis Pigmentosa (RP): Diagnosis, Symptoms & Treatmenthttps://my.clevelandclinic.org/health/diseases/17429-retinitis-pigmentosa
Retinitis pigmentosa (RP) is the term for a group of inherited eye diseases (IRDs) that affect the retina. […] If you are diagnosed with RP or IRD, its important to obtain genetic testing that can sometimes determine the exact mutation causing the disease. Genetic testing is done with a specifically trained genetic counselor who can help with the ordering and interpretation of the test. Identifying the mutation is important because it can provide insight into how the disease may progress and how other family members may be affected. It also might qualify you to receive gene therapy or participate in a gene therapy clinical trial. […] Its important to schedule and keep regular eye examinations. If your healthcare provider thinks you may have retinitis pigmentosa, they will use some or all of the following tests to make their diagnosis. They may also suggest genetic testing and/or counseling.
- #83 Retinal Diseases – Optometrists.orghttps://www.optometrists.org/general-practice-optometry/guide-to-eye-conditions/guide-to-retinal-diseases/retinal-diseases/
Retinal diseases cause damage to any part of the retina. Untreated retinal diseases can lead to severe vision loss and even blindness. With early detection, some retinal diseases can be treated, while others can be controlled or slowed down to preserve, or even restore vision. […] If you experience symptoms of retinal disease contact an eye doctor to diagnose and manage your condition. […] Retinal detachments affect 5 in 100,000 people, annually. […] Diabetic retinopathy is a serious sight-threatening complication of diabetes that can lead to blindness. […] 95% of people with diabetic retinopathy can avoid severe vision loss with early treatment. […] Research has shown that ERM affects up to 2 percent of patients over age 50 and 20 percent over age 75. […] RP is one of the most frequently occurring forms of inherited retinal degeneration.
- #84 Retinitis Pigmentosa (RP): Diagnosis, Symptoms & Treatmenthttps://my.clevelandclinic.org/health/diseases/17429-retinitis-pigmentosa
Retinitis pigmentosa (RP) is the term for a group of inherited eye diseases (IRDs) that affect the retina. […] If you are diagnosed with RP or IRD, its important to obtain genetic testing that can sometimes determine the exact mutation causing the disease. Genetic testing is done with a specifically trained genetic counselor who can help with the ordering and interpretation of the test. Identifying the mutation is important because it can provide insight into how the disease may progress and how other family members may be affected. It also might qualify you to receive gene therapy or participate in a gene therapy clinical trial. […] Its important to schedule and keep regular eye examinations. If your healthcare provider thinks you may have retinitis pigmentosa, they will use some or all of the following tests to make their diagnosis. They may also suggest genetic testing and/or counseling.
- #85 Retinitis Pigmentosa (RP): Diagnosis, Symptoms & Treatmenthttps://my.clevelandclinic.org/health/diseases/17429-retinitis-pigmentosa
Electroretinography is a test that measures your retinas response to light. It checks the function of different retinal cells. Your healthcare provider will flash lights in front of your eyes to measure your retinas activity. […] Optical coherence tomography (OCT) is a noninvasive test that can measure the thickness of your retina and analyze the retinal integrity. […] This type of imaging test is noninvasive and can reveal information about the health of your retinas. Its used for diagnosis, treatment and monitoring. […] A lot of advances have been made in recent years in the field of RP and IRDs including the introduction of gene therapy. […] The FDA has approved voretigene neparvovec-ryzl (Luxturna), a gene therapy product to treat a specific type of retinitis pigmentosa. […] There are ongoing clinical trials for gene therapy for the other types of RP and IRDs. […] Appropriate genetic testing and counseling are important for anybody diagnosed with retinitis pigmentosa.
- #86 Retinal Diseases – Optometrists.orghttps://www.optometrists.org/general-practice-optometry/guide-to-eye-conditions/guide-to-retinal-diseases/retinal-diseases/
Retinal diseases cause damage to any part of the retina. Untreated retinal diseases can lead to severe vision loss and even blindness. With early detection, some retinal diseases can be treated, while others can be controlled or slowed down to preserve, or even restore vision. […] If you experience symptoms of retinal disease contact an eye doctor to diagnose and manage your condition. […] Retinal detachments affect 5 in 100,000 people, annually. […] Diabetic retinopathy is a serious sight-threatening complication of diabetes that can lead to blindness. […] 95% of people with diabetic retinopathy can avoid severe vision loss with early treatment. […] Research has shown that ERM affects up to 2 percent of patients over age 50 and 20 percent over age 75. […] RP is one of the most frequently occurring forms of inherited retinal degeneration.
- #87https://www.eyecaresuperior.com/detecting-retinal-diseases-through-eye-exams5595172b
For diabetic retinopathy, routine eye exams can reveal signs of damaged blood vessels, microaneurysms, and retina swelling due to diabetes. […] A comprehensive eye exam is necessary to diagnose retinal detachment. This exam involves using an ophthalmoscope to check the retina and optic nerve for tears or detachment from underlying layers. […] Early detection of these retinal diseases through regular eye exams is important. It helps eyecare professionals make timely diagnoses and treatments. […] Detecting retinal diseases early is very important. It helps in timely treatment and can prevent irreversible vision loss. […] Regular retinal exams are essential for catching issues before they get worse. In diabetic retinopathy, early detection can prevent damage to blood vessels in the retina.
- #88 Inflammation: Chorioretinitis, optic neuritis, retinal detachment.https://www.vin.com/apputil/content/defaultadv1.aspx?pId=11132&id=3844157
Retinal detachments may occur in dogs and less commonly in cats which are unassociated with obvious inflammatory disease. […] In some of these cases the extent of detachment can be limited (if caught early enough) by spot-welding (or creating a retinopexy) the retina to the underlying retinal pigment epithelium with an argon or diode laser. […] In more severe detachments it may be possible to perform scleral buckling or vitreoretinal surgery to repair the detachment. […] In retinal degeneration the lesions vary in appearance depending on location in the tapetal or non-tapetal fundus. […] Degenerative lesions in the tapetal fundus result in thinning of the retina over the underlying tapetum. […] The diagnosis of progressive retinal atrophy is based (currently) on behavioral signs (especially night blindness) and the presence of the typical lesions described above.
- #89 Retinal diseases – Symptoms and causes – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825
Retinal diseases vary widely, but most of them cause visual symptoms. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] It’s important to pay attention to any changes in your vision and find care quickly. Seek immediate medical attention if you suddenly have floaters, flashes or reduced vision. These are warning signs of potentially serious retinal disease.
- #90 Our Officeshttps://associatedretinaconsultants.com/list-of-retinal-diseases/
Identifying and treating retinal disease in Phoenix is critical to your overall sight and your quality of life. The earlier you receive a diagnosis, the sooner you can begin treatment, bettering your overall prognosis. […] If you experience any of these symptoms, particularly after eye surgery or eye injury, call your ophthalmologist right away to schedule an appointment. The Phoenix retina doctors at Associated Retina Consultants can diagnose the root cause of your vision problems and recommend treatment to help save your vision.
- #91 Diagnostic tests of the retina – Oftalvisthttps://www.oftalvist.es/en/eye-treatments/retina-and-macula-diagnosis
To properly diagnose these and other disorders related to the retina, we need to perform exhaustive examinations of the eye fundus using sophisticated technology and specific tests in the modern consultation room of a ophthalmologist retinal and macular specialist, as this will usually enable us to detect said disorders early, some of which are the main causes of blindness in Spain. […] Early detection is essential in any of the retinal diseases, especially in those that carry a high risk of blindness. Preventive action, therefore, can avoid more serious problems, which is why it is essential that patients undergo annual examinations carried out by professionals and retina specialists. […] Autofluorescence imaging of the fundus of the eye is a non-invasive technique that provides detailed information about the occurrence and development of complex and hereditary retinal disorders, such as AMD. It provides information about the pathophysiology of the disorder and helps ophthalmologists to better understand the nature of macular and retinal disorders so they can make more accurate diagnoses.
- #92 Retinal problems: Types, symptoms, and treatmentshttps://www.medicalnewstoday.com/articles/retinal-problems
The goals of treatment will be to preserve and restore vision or to prevent and slow down the damage in the retina. […] Treatment for retinal disorders varies depending on the type and extent of the condition. Options may range from medications and vitamins to injections, surgery, and laser treatments. […] Retinal problems are conditions that affect the retina and often cause difficulty with vision. Early detection is essential to prevent and delay the progression of most retinal disorders. […] It is advisable to have regular eye checkups, particularly if a person has a higher risk of retinal disorders. If a person begins to experience any changes to their vision, they should contact an eye doctor.
- #93 Getting the Right Diagnosis for a Retinal Disease â Foundation Fighting Blindnesshttps://www.fightingblindness.org/news/getting-the-right-diagnosis-for-a-retinal-disease-650
Definitive diagnoses for inherited retinal diseases dont always come easy, even for the patients of the most knowledgeable doctors. […] Many readers are understandably frustrated by a doctors inability to determine exactly what retinal condition is affecting them or loved ones. […] While getting an accurate diagnosis can be challenging, trying to do so is important because it may enable an affected person to: 1) determine which clinical trials and emerging treatments may be appropriate; 2) better understand how vision may change over time; and 3) figure out if family members may be at risk for the disease. […] First and foremost, most eye doctors dont see many patients affected by inherited retinal diseases, because the conditions are rare. […] Another major reason diagnoses are tough is that some conditions can look the same to even a well-trained retinal specialist.
- #94 Retina Diagnostic Tests and Tools | Assil Gaur Eye Los Angeleshttps://assileye.com/library/retina-diagnostic-tests
When you visit a retina specialist, there are a number of tests that your doctor might do in order to diagnose or monitor certain retinal conditions. […] Digital fundus photography is painless and non-invasive. After your eyes are dilated, youll be seated comfortably and asked to place your chin in a chin-rest on the camera. […] Fluorescein Angiography (FA) provides valuable diagnostic information needed to treat certain retinal conditions, like diabetic retinopathy and wet macular degeneration, among others. […] ICG angiography is important for diagnosing and treating diseases affecting the deep circulation of the eye. […] Optical coherence tomography (OCT) is one of the most common tests performed by a retinal specialist. […] Repeat OCT scans are frequently used to follow retinal conditions and their response to treatment over time.
- #95 Manual of Retinal Diseases: A Guide to Diagnosis and Management | SpringerLinkhttps://link.springer.com/book/10.1007/978-3-319-20460-4
Offers clear guidance on the diagnosis and management of medical and surgical retinal diseases […] This book is a comprehensive source of authoritative information on the clinical features, diagnosis, differential diagnosis, and management of medical and surgical retinal diseases. […] Easy-to-read chapters convey the fundamental concepts with the aid of clinical photographs, imaging studies (including fluorescein and indocyanine angiograms, ultrasonograms, CT scans, and MRI scans) and tables. […] This book covers every aspect of retinal pathology and treatment.
- #96 Recent advances in retinal imaging and diagnosticshttps://pmc.ncbi.nlm.nih.gov/articles/PMC7041830/
OCT diagnoses many subtle pathologies which may be missed during a clinical examination. […] Advances in retinal imaging have led to a paradigm change in diagnosis and management of retinal diseases. […] In future, use of new technologies like AI and DLS in screening programmes is likely to help identify several blinding retinal conditions and treat them at an early stage.
- #97 Diagnostics | Special Issue : Advances in Diagnosis and Management of Retinal Diseaseshttps://www.mdpi.com/journal/diagnostics/special_issues/74PZ6F4M45
Advances in Diagnosis and Management of Retinal Diseases […] Retinal disorders are a diverse and complex group of ophthalmic conditions that include retinal vascular diseases, macular diseases, retinal detachment, inherited retinal diseases, and choroidal tumors affecting the retina, all of which can seriously threaten vision and even lead to blindness. Therefore, early diagnosis and effective treatment are crucial. […] This Special Issue will highlight the latest diagnostic technologies for retinal diseases, such as optical coherence tomography (OCT) and fundus fluorescein angiography, to aid clinicians in more accurately diagnosing such conditions. […] Furthermore, we will explore the application of innovative technologies, such as artificial intelligence and big data, in the diagnosis of retinal diseases, providing more possibilities for accurate diagnosis.
- #98 Genetic testing and diagnosis of inherited retinal diseases | Orphanet Journal of Rare Diseases | Full Texthttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02145-0
As the number of genes commercially available for sequencing increases and the use of genetic sequencing processes becomes more widespread, accurate interpretation of the results from these tests is critical. […] On the basis of findings from the genetic test, counselors will also advise on the implications of results for at-risk family members, offer appropriate screening or preventative strategies, and educate on other potential health or lifestyle effects. […] Despite the complexity of genetic tests and their practical limitations, it is necessary to overcome these barriers to ensure that the best medical care is provided for individuals affected by IRDs. […] The American Academy of Ophthalmology recommendations for the genetic testing of IRDs state that whenever clinical findings suggest the possibility for an IRD for which a causative gene or genes have been identified, the treating ophthalmologist should either discuss the value of genetic testing and order an appropriate test (if available) or refer the individual to an IRD specialist or ocular genetic counselor with expertise in the selection and interpretation of molecular tests.