Zaćma dziecięca
Etiologia i przyczyny

Zaćma dziecięca, obejmująca zarówno zaćmę wrodzoną, jak i nabytą, stanowi istotną przyczynę upośledzenia widzenia i ślepoty u dzieci, odpowiadając za 5-20% przypadków ślepoty dziecięcej. Częstość występowania zaćmy u dzieci wynosi około 3-4 na 10 000 żywych urodzeń. Etiologia zaćmy wrodzonej jest zróżnicowana i obejmuje czynniki genetyczne (22-30% przypadków, z dominującym dziedziczeniem autosomalnym w 75%), aberracje chromosomowe (np. zespół Downa, Turner), zakażenia wewnątrzmaciczne (różyczka, toksoplazmoza, CMV), zaburzenia metaboliczne (galaktozemia, niedobór galaktokinazy) oraz współistniejące wady oka (mikroftalmia, aniridia). Zaćma nabyta u dzieci jest najczęściej wynikiem urazów (około 40% przypadków u starszych dzieci), stosowania leków (glikokortykosteroidy, miotyki, chlorpromazyna), chorób ogólnoustrojowych (cukrzyca, dystrofia miotoniczna) oraz zakażeń nabytych (odra, świnka). W około 50-70% przypadków jednostronnej i 60% obustronnej zaćmy wrodzonej etiologia pozostaje idiopatyczna, co podkreśla potrzebę dalszych badań genetycznych i molekularnych.

Etiologia zaćmy dziecięcej

Zaćma dziecięca, czyli zmętnienie soczewki oka, może występować od urodzenia (zaćma wrodzona) lub rozwijać się w okresie dzieciństwa (zaćma nabyta). Patologia ta stanowi jedną z głównych przyczyn upośledzenia widzenia i ślepoty u dzieci, odpowiadając za 5-20% przypadków ślepoty dziecięcej na świecie. Częstość występowania zaćmy u dzieci szacuje się na około 3-4 na 10 000 żywych urodzeń, choć rzeczywista liczba może być wyższa, ponieważ dane te nie uwzględniają zaćm bez istotnego wpływu na widzenie.12

Przyczyny zaćmy wrodzonej

Zaćma wrodzona jest obecna przy urodzeniu lub rozwija się w pierwszych miesiącach życia. Najczęstsze przyczyny jej występowania obejmują:34

Czynniki genetyczne – stanowią one najczęstszą przyczynę obustronnej zaćmy wrodzonej w Wielkiej Brytanii. Szacuje się, że około 22-30% przypadków zaćmy wrodzonej ma podłoże genetyczne. Większość z nich dziedziczy się w sposób autosomalny dominujący (75% przypadków dziedzicznych), choć możliwe jest również dziedziczenie autosomalne recesywne i sprzężone z chromosomem X.56

W przypadku rodzinnego występowania zaćmy wrodzonej, historia rodzinna występuje w około 1 na 5 przypadków tej choroby. Najnowsze badania sugerują, że przyczyny genetyczne odpowiadają za większość przypadków obustronnej zaćmy wrodzonej.7

Mutacje genowe odpowiedzialne za rozwój zaćmy często dotyczą genów kodujących białka krystaliny, które stanowią główny składnik strukturalny soczewki. Zidentyfikowano ponad 100 mutacji, głównie typu missense, w 12 różnych ludzkich genach kodujących α-, β- i γ-krystaliny, które odpowiadają za około 50% przypadków niesyndromicznej zaćmy dziedzicznej.8

Mutacje w genach kodujących białka błonowe stanowią około 5% wszystkich przypadków dziedzicznej zaćmy. Prowadzą one do nieprawidłowego transportu jonów, substancji rozpuszczonych i wody między komórkami w ludzkiej soczewce.9

Zakażenia wewnątrzmaciczne u matki w trakcie ciąży stanowią istotną przyczynę zaćmy wrodzonej. Najczęstsze infekcje związane ze zwiększonym ryzykiem zaćmy wrodzonej to:1011

1213

Aberracje chromosomowe – zaćma wrodzona może występować jako część szerszego obrazu klinicznego związanego z nieprawidłowościami chromosomowymi, takimi jak:1415

  • zespół Downa (trisomia 21) – najczęstsza aberracja chromosomowa związana z zaćmą
  • zespół Turnera
  • trisomia 13
  • trisomia 18
  • zespół cri-du-chat

16

Zaburzenia metaboliczne – mogą prowadzić do rozwoju zaćmy wrodzonej, m.in.:1718

19

Współistniejące wady oka mogą również przyczyniać się do rozwoju zaćmy wrodzonej:20

  • mikroftalmia (małoocze)
  • mikrokornea (mała rogówka)
  • aniridia (brak tęczówki)
  • przetrwałe pierwotne, hyperplastyczne ciało szkliste (PHPV)
  • anomalia Petersa
  • gutty rogówki
  • koloboma

Przyczyny zaćmy nabytej

Zaćma nabyta rozwija się po urodzeniu, w okresie niemowlęcym, dziecięcym lub młodzieńczym. Jej przyczyny obejmują:2122

Urazy oka – stanowią jedną z głównych przyczyn zaćmy jednostronnej u dzieci. Według niektórych badań, urazy odpowiadają za około 40% przypadków zaćmy u starszych dzieci. Mogą mieć charakter przypadkowy lub nieprzypadkowy (np. w wyniku przemocy).2324

Urazy mogą wynikać z:25

  • wypadków
  • urazów nieprzypadkowych (przemoc)
  • promieniowania
  • fotokoagulacji laserowej

Leki – długotrwałe stosowanie niektórych leków może prowadzić do rozwoju zaćmy u dzieci:2627

28

Choroby ogólnoustrojowe mogą przyczyniać się do rozwoju zaćmy dziecięcej:29

  • cukrzyca – prowadzi do tzw. zaćmy „płatkowej śnieżnej” poprzez zmiany energetyczne w soczewce związane z podwyższonym poziomem glukozy
  • dystrofia miotoniczna
  • reumatoidalne zapalenie stawów
  • nadciśnienie tętnicze

3031

Choroby i stany oka mogą prowadzić do wtórnego rozwoju zaćmy:32

Zakażenia nabyte po urodzeniu, takie jak:33

  • odra
  • świnka
  • polio

Toksokaroza – rzadka infekcja pasożytnicza, która może niekiedy infekować oczy, przenoszona od zwierząt do ludzi poprzez ich zakażone odchody.34

Różnice między zaćmą jednostronną a obustronną

Rozróżnienie między zaćmą jednostronną a obustronną może być pomocne przy określaniu etiologii:35

Zaćma obustronna jest częściej związana z:3637

  • czynnikami genetycznymi (autosomalnie dominującymi w 75% przypadków)
  • wieloukładowymi zaburzeniami genetycznymi
  • wrodzonymi błędami metabolizmu
  • endokrynopatiami
  • zakażeniami wewnątrzmacicznymi (infekcje TORCH)

Częstość występowania poszczególnych przyczyn w obustronnej zaćmie wrodzonej:38

Zaćma jednostronna najczęściej:3940

  • nie jest dziedziczona ani związana z chorobą ogólnoustrojową
  • ma nieznaną etiologię (idiopatyczna)
  • jest wynikiem lokalnej dysplazji
  • może być związana z innymi anomaliami oka, takimi jak przetrwałe unaczynienie płodowe (PFV), tylny lentikonus lub lentiglobus

Przyczyny idiopatyczne

W wielu przypadkach zaćmy dziecięcej nie udaje się ustalić dokładnej przyczyny. Około 50-70% przypadków jednostronnej zaćmy wrodzonej i około 60% przypadków obustronnej zaćmy wrodzonej pozostaje idiopatycznych, bez ustalonej przyczyny.4142

Warto zauważyć, że odsetek zaćm spowodowanych mutacjami genetycznymi jest prawdopodobnie wyższy niż się obecnie uważa, ponieważ wielu pacjentów nie jest badanych genetycznie, a nadal odkrywane są nowe geny związane z rozwojem zaćmy.43

Czynniki ryzyka zaćmy dziecięcej

Istnieje szereg czynników zwiększających ryzyko rozwoju zaćmy u dzieci:44

  • wywiad rodzinny w kierunku zaćmy dziecięcej
  • wcześniactwo
  • niska masa urodzeniowa
  • hipoglikemia u matki podczas ciąży
  • wstrząs septyczny w okresie poporodowym
  • uraz oko w trakcie ciąży lub po urodzeniu
  • ekspozycja na promieniowanie jonizujące
  • ekspozycja na niektóre leki lub toksyny w okresie płodowym

4546

Leki związane z rozwojem zaćmy

Niektóre leki mogą zwiększać ryzyko rozwoju zaćmy u dzieci:47

  • antybiotyki tetracyklinowe stosowane w trakcie ciąży
  • glikokortykosteroidy (doustne, wziewne, miejscowe w postaci kropli i maści)
  • statyny

4849

Czynniki środowiskowe

Ekspozycja na następujące czynniki środowiskowe może zwiększać ryzyko rozwoju zaćmy:50

  • bezpośrednia ekspozycja na promieniowanie UV
  • promieniowanie jonizujące
  • palenie tytoniu przez matkę podczas ciąży
  • otyłość

Syndromiczne przyczyny zaćmy dziecięcej

Zaćma dziecięca może być częścią szerszego obrazu klinicznego w różnych zespołach genetycznych i chorobach ogólnoustrojowych.51

Zespoły genetyczne i aberracje chromosomowe

Zaćma może występować w przebiegu licznych zespołów genetycznych:5253

  • Zespół Downa (trisomia 21) – najczęstsza aberracja chromosomowa związana z zaćmą (5,6% przypadków obustronnej zaćmy)
  • Zespół Marfana (4,2% przypadków obustronnej zaćmy)
  • Zespół Lowe’a (1,7% przypadków obustronnej zaćmy)
  • Dystrofia miotoniczna
  • Zespół Nance-Horan (dziedziczenie sprzężone z X recesywne)
  • Choroba Norriego (dziedziczenie sprzężone z X recesywne)
  • Zespół Lentz (dziedziczenie sprzężone z X)

5455

Choroby metaboliczne

Szereg chorób metabolicznych może być związanych z rozwojem zaćmy u dzieci:5657

  • Galaktozemia – najczęstsza metaboliczna przyczyna zaćmy wrodzonej
  • Choroba Wilsona – zaburzenie gromadzenia miedzi w organizmie
  • Ksantomatoza mózgowo-ścięgnista
  • Choroba Fabry’ego
  • Mannozydoza
  • Choroba Refsuma

58

Choroby układowe współistniejące z zaćmą

Zaćma dziecięca może towarzyszyć różnym chorobom układowym, w tym:59

  • Choroby skóry: progeria, rybia łuska, dysplazja ektodermalna
  • Choroby serca: kardiomiopatia przerostowa
  • Zaburzenia neurologiczne: zespół Zellwegera, zespół Meckela-Grubera
  • Zaburzenia kostne i mięśniowo-szkieletowe: zespół Smitha-Lemliego-Opitza, zespół Marfana, zespół Conradiego-Hünermanna
  • Choroby nerek: zespół Lowe’a
  • Zaburzenia stomatologiczne: zespół Cenani-Lenza

60

Patofizjologia rozwoju zaćmy dziecięcej

Zaćma dziecięca może rozwijać się w wyniku różnych mechanizmów patofizjologicznych, które prowadzą do zmętnienia soczewki.61

Każdy czynnik uszkadzający (metaboliczny, infekcyjny, urazowy) oddziałujący na jądro soczewki lub włókna soczewkowe może prowadzić do zmętnienia przezroczystych struktur soczewki. Lokalizacja i wzorzec tego zmętnienia mogą być wykorzystane do określenia czasu wystąpienia czynnika uszkadzającego oraz jego etiologii.62

W przypadku zaćmy wrodzonej, proces patologiczny rozpoczyna się już w życiu płodowym i wiąże się z nieprawidłowym rozwojem soczewki podczas ciąży. Zmętnienie może być spowodowane zaburzeniami w rozwoju białek strukturalnych soczewki, zwłaszcza krystaliny, które są głównym składnikiem soczewki.63

W przypadku zaćmy nabytej, mechanizmy patofizjologiczne obejmują:6465

  • Nieprawidłowe interakcje między białkami tworzącymi soczewkę, prowadzące do ich zbrylania i tworzenia się zmętnień
  • Uszkodzenie struktur soczewki przez wolne rodniki
  • Zmiany w metabolizmie energetycznym soczewki, np. w przypadku cukrzycy
  • Reakcje zapalne w odpowiedzi na uraz lub infekcję
  • Bezpośrednie uszkodzenie struktury soczewki przez czynniki fizyczne (urazy, promieniowanie)

W cukrzycy, podwyższony poziom glukozy we krwi prowadzi do zmian w zapotrzebowaniu energetycznym soczewki. Powoduje to obrzęk wewnątrz soczewki oraz zmiany jej kształtu i wielkości, co prowadzi do rozwoju zaćmy określanej jako „płatkowa śnieżna”.66

W przypadku zaćmy pourazowej typu „gwiaździstego”, białka w naturalnej soczewce pod wpływem ekstremalnego ciśnienia i ruchu zaczynają mętnieć i puchnąć.67

Diagnostyka genetyczna zaćmy dziecięcej

Badania genetyczne stanowią kluczowy element diagnostyki zaćmy wrodzonej, a ostatnie badania wykazały, że częstość rozpoznań molekularnych wynosi od 50% do 90% w przypadkach obustronnych.68

Przegląd z 2020 roku dotyczący genetyki zaćmy wrodzonej wykazał, że defekty genetyczne są odpowiedzialne za około jedną czwartą przypadków zaćmy wrodzonej. Zidentyfikowano wiele mutacji w ponad 100 genach związanych z zaćmą wrodzoną.69

Ustalenie molekularnej etiologii zaćmy wrodzonej jest istotne zarówno dla identyfikacji i lepszego zrozumienia szlaków zaangażowanych w jej patogenezę, jak i dla zapewnienia zindywidualizowanego poradnictwa genetycznego. W przypadku zaćmy izolowanej, etiologia jest nieznana w 50% przypadków, ale do 30% ma podłoże monogenowe i ogólnie dziedziczy się w sposób autosomalny dominujący.70

Wiele czynników, w tym tło społeczno-kulturowo-ekonomiczne, specyficzne cechy genetyczne rasy, częstość małżeństw między krewnymi oraz różnice w programach szczepień i badań przesiewowych, powoduje specyficzne dla danej populacji wzorce występowania zaćmy wrodzonej i jej etiologii molekularnej.71

Zapobieganie zaćmie dziecięcej

Nie zawsze można zapobiec zaćmie wrodzonej, jednak istnieją działania, które mogą pomóc zmniejszyć ryzyko jej wystąpienia:72

  • Konsultacja z genetykiem, jeśli w rodzinie występowały wady wrodzone oka
  • Szczepienia przeciwko różyczce i innym chorobom zakaźnym przed zajściem w ciążę
  • Unikanie niepotrzebnych leków w trakcie ciąży, zwłaszcza tetracyklin i glikokortykosteroidów
  • Regularne badania prenatalne
  • Właściwa kontrola chorób metabolicznych, takich jak cukrzyca, podczas ciąży
  • Unikanie ekspozycji na toksyny i promieniowanie podczas ciąży

W przypadku zaćmy nabytej, kluczowe działania profilaktyczne obejmują:73

  • Ochronę oczu dzieci przed urazami
  • Właściwą kontrolę chorób metabolicznych, takich jak cukrzyca
  • Ograniczenie stosowania glikokortykosteroidów do niezbędnego minimum
  • Ochronę oczu przed promieniowaniem UV

Podsumowanie etiologii zaćmy dziecięcej

Etiologia zaćmy dziecięcej jest niezwykle zróżnicowana i obejmuje szeroki zakres czynników genetycznych, metabolicznych, infekcyjnych i środowiskowych. Rozróżnienie między zaćmą wrodzoną a nabytą, jednostronną a obustronną, ma istotne znaczenie kliniczne, gdyż pomaga w ukierunkowaniu diagnostyki i określeniu potencjalnych przyczyn.74

Pomimo postępów w diagnostyce genetycznej i obrazowej, w wielu przypadkach, szczególnie zaćmy jednostronnej, etiologia pozostaje nieznana. Istotne jest przeprowadzenie kompleksowej oceny dziecka z zaćmą, obejmującej wywiad rodzinny, badania genetyczne i metaboliczne, w celu identyfikacji potencjalnych przyczyn i chorób współistniejących.75

Wczesne rozpoznanie i leczenie zaćmy mają kluczowe znaczenie dla zapobiegania trwałemu upośledzeniu widzenia i rozwojowi amblyopii u dzieci. Dlatego też, niezależnie od etiologii, szybka interwencja terapeutyczna jest niezbędna dla prawidłowego rozwoju widzenia.76

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  1. 17.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    A cataract is any light scattering opacity of the lens. It is estimated that congenital cataracts are responsible for 5% to 20% of blindness in children worldwide. Incidence varies from country to country. One retrospective study of the prevalence of infantile cataracts in the U.S. showed a rate of 3-4 visually significant cataracts per 10,000 live births. This is a similar rate to a U.K. study which showed 3.18 per 10,000. These numbers underestimate the total number since they do not take into consideration visually insignificant cataracts. […] The causes of infantile cataracts have been the source of much speculation and research. Making a distinction between unilateral and bilateral cataracts may be useful when considering etiology. […] The majority of bilateral congenital or infantile cataracts not associated with a syndrome have no identifiable cause. Genetic mutation is likely the most common cause. Over fifteen genes involved in cataract formation have been identified, and the inheritance is most often autosomal dominant although it can be X-linked or autosomal recessive. Within the same pedigree, there can be considerable morphologic variation.
  • #2 Congenital cataracts – resources and information | RNIB | RNIB
    https://www.rnib.org.uk/your-eyes/eye-conditions-az/congenital-cataracts/
    Some babies are born with cataracts and some develop them in the first six months of their lives. When a baby is born with a cataract, it is called a congenital cataract. If a cataract develops in the first six months of life, it is known as an infantile cataract. […] Around 3-4 per 10,000 children born in the UK have a cataract which affects vision. About a third of cataracts do not have any cause and arent linked with any other disease or condition. […] Unilateral cataract usually has no known cause. In some cases, it can be linked with other conditions in the eye, such as having an abnormally small eye, or other eye structures not developing as they should when the baby was growing in the womb. […] Bilateral cataracts often run in families, which means a baby might inherit them. They can also be linked with other conditions affecting the entire body or infections, such as measles or rubella, when the baby was growing in the womb. Medical conditions that affect the babys metabolism, that is how their body turns food into energy, can also cause congenital cataracts.
  • #3
    https://www.nhs.uk/conditions/childhood-cataracts/causes/
    There are a number of reasons why a child may be born with cataracts or develop them while they’re still young. […] But in many cases it’s not possible to determine the exact cause. […] Some of the main causes of childhood cataracts are described below. […] Cataracts present from birth (congenital cataracts) are sometimes caused by a faulty gene being passed to a child from their parents. […] It’s estimated there’s a family history of congenital cataracts in around 1 in every 5 cases of the condition. […] Recent research suggests genetic causes are responsible for the majority of bilateral congenital cataracts in the UK. […] Cataracts can also be associated with conditions caused by chromosome abnormalities, such as Down’s syndrome. […] Congenital cataracts can also be caused by infections caught by the mother during pregnancy.
  • #4 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #5
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/
    Worldwide 20,00040,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. […] In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. […] Cataract occurring in children has many different causes, which may include infections passed from mother to child during pregnancy, trauma, medications and exposure to radiation. […] In most cases of cataract occurring in both eyes, a genetic cause can be found which may be inherited from parents or occur sporadically in the developing baby itself while in the womb. […] Approximately 50% of non-syndromic hereditary cataract are due to mutations in genes coding for crystallin proteins with over 100 mutations, mostly missense, encoding 12 different human , and -crystallin genes.
  • #6 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology
    https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377
    Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. […] Many genes have been identified in the molecular etiology of congenital cataract. Most mutations have been reported in the crystallin genes. […] Although most cases of congenital cataract were idiopathic (62.2%), the prevalence of inherited cataract was reported to be 22.3%. […] Twenty-nine percent of congenital cataract cases may be linked to genetic causes, while unilateral cases are more likely to be idiopathic. […] Pediatric cataracts can be classified into two main groups, hereditary and nonhereditary. […] Hereditary pediatric cataracts may be associated with metabolic diseases (e.g., galactosemia, Wilsons disease, diabetes, cerebrotendinous xanthomatosis, Fabry disease, mannosidosis, Refsum disease)
  • #7
    https://www.nhs.uk/conditions/childhood-cataracts/causes/
    There are a number of reasons why a child may be born with cataracts or develop them while they’re still young. […] But in many cases it’s not possible to determine the exact cause. […] Some of the main causes of childhood cataracts are described below. […] Cataracts present from birth (congenital cataracts) are sometimes caused by a faulty gene being passed to a child from their parents. […] It’s estimated there’s a family history of congenital cataracts in around 1 in every 5 cases of the condition. […] Recent research suggests genetic causes are responsible for the majority of bilateral congenital cataracts in the UK. […] Cataracts can also be associated with conditions caused by chromosome abnormalities, such as Down’s syndrome. […] Congenital cataracts can also be caused by infections caught by the mother during pregnancy.
  • #8
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/
    Worldwide 20,00040,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. […] In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. […] Cataract occurring in children has many different causes, which may include infections passed from mother to child during pregnancy, trauma, medications and exposure to radiation. […] In most cases of cataract occurring in both eyes, a genetic cause can be found which may be inherited from parents or occur sporadically in the developing baby itself while in the womb. […] Approximately 50% of non-syndromic hereditary cataract are due to mutations in genes coding for crystallin proteins with over 100 mutations, mostly missense, encoding 12 different human , and -crystallin genes.
  • #9
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/
    The proportion of cataract due to genetic mutations is likely higher than we think because many patients are not tested and there are more cataract causing genes to be discovered. […] Genetic mutations in over 10 membrane protein genes lead to inappropriate transport of ions, solutes and water between cells in the human lens. […] Mutations in genes encoding major intrinsic proteins account for 5% of all inherited cataract. […] Genetic testing is a key investigation for congenital cataracts, and recent studies have shown molecular diagnostic rates between 50% and 90% for bilateral cases.
  • #10
    https://www.nhs.uk/conditions/childhood-cataracts/causes/
    The main infections linked to an increased risk of congenital cataracts include: rubella (german measles) a viral infection that can cause a red-pink spotty skin rash, toxoplasmosis a parasitic infection caught by consuming food, water or soil contaminated with infected cat’s faeces, cytomegalovirus (CMV) a common virus that can cause flu-like symptoms, chickenpox a mild but highly infectious condition caused by the varicella-zoster virus, herpes simplex virus a virus that often causes cold sores. […] Causes of this type of cataracts can include: galactosaemia where the sugar galactose (which mainly comes from lactose, the sugar in milk) cannot be broken down by the body, diabetes a lifelong condition that causes a person’s blood sugar level to become too high, eye trauma as a result of an injury to the eye or eye surgery, toxocariasis a rare parasitic infection that can sometimes infect the eyes, spread from animals to humans via their infected faeces. […] But most of these problems are either rare or do not usually cause cataracts to develop in children.
  • #11 Congenital Cataracts (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/congenital-cataracts.html
    A cataract is any clouding or opacity of the lens of an eye. Congenital means that it happens before birth or during a baby’s first year of life. A baby with congenital cataracts has clouding in one or both eyes. […] Cataracts happen when proteins in the eye’s lens change. They may change because of an infection, a change in DNA, or a chemical imbalance. […] Congenital cataracts can happen in babies who: had an infection before or soon after birth, have a family history of congenital cataracts, were born early (premature). […] The most common infections that cause congenital cataracts include: chickenpox, cytomegalovirus, herpes, HIV, rubella, syphilis, toxoplasmosis. […] Many babies who develop congenital cataracts don’t have other medical problems. In a lot of cases, a cause is not found.
  • #12 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    Systemic associations include metabolic disorders such as galactosemia, Wilson disease, hypocalcemia and diabetes. Cataracts may be a part of a number of syndromes, the most common being trisomy 21. Intrauterine infections including rubella, herpes simplex, toxoplasmosis, varicella and syphilis are another cause. […] In contrast, most unilateral cataracts are not inherited or associated with a systemic disease and are of unknown etiology although they do not rule out the possibility of an associated systemic disease. They are usually the result of local dysgenesis and may be associated with other ocular dysgenesis such as persistent fetal vasculature (PFV), posterior lenticonus or lentiglobus. […] Trauma is a known cause of pediatric cataracts. If there is no known history of trauma to explain an acquired cataract in this age group, investigation must be considered in children who present with other signs suggestive of child abuse. […] Regardless of the etiology, prompt treatment of visually significant cataracts is necessary to allow proper development of vision.
  • #13 Congenital Cataracts, Types, Causes and Treatments – All About Vision
    https://www.allaboutvision.com/conditions/cataracts/congenital/
    Congenital cataracts can occur in newborn babies for many reasons, including inherited tendencies, infection, metabolic problems, diabetes, trauma, inflammation or drug reactions. […] As an example, tetracycline antibiotics used to treat infections in pregnant women have been shown to cause cataracts in newborn babies. […] Congenital cataracts also can occur when, during pregnancy, the mother develops infections such as measles or rubella (the most common cause), rubeola, chicken pox, cytomegalovirus, herpes simplex, herpes zoster, poliomyelitis, influenza, Epstein-Barr virus, syphilis and toxoplasmosis. […] Older babies and children also can be diagnosed with cataracts, known as pediatric cataracts, for similar reasons. However, trauma associated with events such as a blow to the eye is the underlying cause in 40 percent of cases of cataracts in older children. […] Also, some pediatric cataracts may actually be congenital cataracts that simply weren’t identified earlier because the child did not have his or her first eye exam until they were older.
  • #14
    https://www.nhs.uk/conditions/childhood-cataracts/causes/
    There are a number of reasons why a child may be born with cataracts or develop them while they’re still young. […] But in many cases it’s not possible to determine the exact cause. […] Some of the main causes of childhood cataracts are described below. […] Cataracts present from birth (congenital cataracts) are sometimes caused by a faulty gene being passed to a child from their parents. […] It’s estimated there’s a family history of congenital cataracts in around 1 in every 5 cases of the condition. […] Recent research suggests genetic causes are responsible for the majority of bilateral congenital cataracts in the UK. […] Cataracts can also be associated with conditions caused by chromosome abnormalities, such as Down’s syndrome. […] Congenital cataracts can also be caused by infections caught by the mother during pregnancy.
  • #15 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #16 Congenital cataract: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/001615.htm
    A congenital cataract is a clouding of the lens of the eye that is present at birth. […] Unlike most cataracts, which occur with aging, congenital cataracts are present at birth. Congenital cataracts are rare. In most people, no cause can be found. […] Congenital cataracts often occur as part of the following birth defects: Chondrodysplasia syndrome, Congenital rubella, Conradi-Hünermann syndrome, Down syndrome (trisomy 21), Ectodermal dysplasia syndrome, Familial congenital cataracts, Galactosemia, Hallermann-Streiff syndrome, Lowe syndrome, Marinesco-Sjögren syndrome, Pierre-Robin syndrome, Trisomy 13.
  • #17 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #18 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    Systemic associations include metabolic disorders such as galactosemia, Wilson disease, hypocalcemia and diabetes. Cataracts may be a part of a number of syndromes, the most common being trisomy 21. Intrauterine infections including rubella, herpes simplex, toxoplasmosis, varicella and syphilis are another cause. […] In contrast, most unilateral cataracts are not inherited or associated with a systemic disease and are of unknown etiology although they do not rule out the possibility of an associated systemic disease. They are usually the result of local dysgenesis and may be associated with other ocular dysgenesis such as persistent fetal vasculature (PFV), posterior lenticonus or lentiglobus. […] Trauma is a known cause of pediatric cataracts. If there is no known history of trauma to explain an acquired cataract in this age group, investigation must be considered in children who present with other signs suggestive of child abuse. […] Regardless of the etiology, prompt treatment of visually significant cataracts is necessary to allow proper development of vision.
  • #19
    https://www.nhs.uk/conditions/childhood-cataracts/causes/
    The main infections linked to an increased risk of congenital cataracts include: rubella (german measles) a viral infection that can cause a red-pink spotty skin rash, toxoplasmosis a parasitic infection caught by consuming food, water or soil contaminated with infected cat’s faeces, cytomegalovirus (CMV) a common virus that can cause flu-like symptoms, chickenpox a mild but highly infectious condition caused by the varicella-zoster virus, herpes simplex virus a virus that often causes cold sores. […] Causes of this type of cataracts can include: galactosaemia where the sugar galactose (which mainly comes from lactose, the sugar in milk) cannot be broken down by the body, diabetes a lifelong condition that causes a person’s blood sugar level to become too high, eye trauma as a result of an injury to the eye or eye surgery, toxocariasis a rare parasitic infection that can sometimes infect the eyes, spread from animals to humans via their infected faeces. […] But most of these problems are either rare or do not usually cause cataracts to develop in children.
  • #20 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #21
    https://www.aao.org/eye-health/diseases/what-are-pediatric-cataracts
    Cataracts in a child can be congenital (present at birth) or acquired (develop as an infant, child, or adolescent). […] Genetics, metabolic disorders like diabetes, and eye injury can all cause cataracts. […] Many times the cause of cataracts in a child is not known.
  • #22 Cataracts in Children – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=cataracts-in-children-90-P02105
    Cataracts may happen when the protein that makes up the lens gets cloudy. This affects your childs vision. […] Some babies are born with cataracts or get them in childhood. These often happen in both eyes. This type of cataract may not affect your childs vision. Those that do often need to be removed. […] These cataracts form because of another illness. This can include diabetes or an eye problem. In some cases, medicine such as steroids can cause this type of cataract. […] A child may be born with a cataract (congenital). Or it may develop later in life (acquired). The following may cause cataracts: Injury, Diabetes, Poisoning, Steroid use, Other illnesses, such as rheumatoid arthritis, Complications from other eye diseases, such as glaucoma. […] Most cataracts that children are born with happen along with other eye or health problems. This type of cataract may be from genetic factors. This can include a metabolic disorder caused by an inherited enzyme deficiency. It can also happen because of a chromosome problem, such as Down syndrome.
  • #23 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    Systemic associations include metabolic disorders such as galactosemia, Wilson disease, hypocalcemia and diabetes. Cataracts may be a part of a number of syndromes, the most common being trisomy 21. Intrauterine infections including rubella, herpes simplex, toxoplasmosis, varicella and syphilis are another cause. […] In contrast, most unilateral cataracts are not inherited or associated with a systemic disease and are of unknown etiology although they do not rule out the possibility of an associated systemic disease. They are usually the result of local dysgenesis and may be associated with other ocular dysgenesis such as persistent fetal vasculature (PFV), posterior lenticonus or lentiglobus. […] Trauma is a known cause of pediatric cataracts. If there is no known history of trauma to explain an acquired cataract in this age group, investigation must be considered in children who present with other signs suggestive of child abuse. […] Regardless of the etiology, prompt treatment of visually significant cataracts is necessary to allow proper development of vision.
  • #24 Congenital Cataracts, Types, Causes and Treatments – All About Vision
    https://www.allaboutvision.com/conditions/cataracts/congenital/
    Congenital cataracts can occur in newborn babies for many reasons, including inherited tendencies, infection, metabolic problems, diabetes, trauma, inflammation or drug reactions. […] As an example, tetracycline antibiotics used to treat infections in pregnant women have been shown to cause cataracts in newborn babies. […] Congenital cataracts also can occur when, during pregnancy, the mother develops infections such as measles or rubella (the most common cause), rubeola, chicken pox, cytomegalovirus, herpes simplex, herpes zoster, poliomyelitis, influenza, Epstein-Barr virus, syphilis and toxoplasmosis. […] Older babies and children also can be diagnosed with cataracts, known as pediatric cataracts, for similar reasons. However, trauma associated with events such as a blow to the eye is the underlying cause in 40 percent of cases of cataracts in older children. […] Also, some pediatric cataracts may actually be congenital cataracts that simply weren’t identified earlier because the child did not have his or her first eye exam until they were older.
  • #25 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #26 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Causes of Bilateral Congenital Cataracts include: Idiopathic Causes (60%), Hereditary Causes (30%), Autosomal Dominant (75%, most common), Autosomal Recessive, X-linked, Intrauterine infection (TORCH infections), Multisystem genetic disorder, Inborn errors of metabolism, Endocrinopathies, Trauma, Uveitic cataract, Ocular Abnormalities, Genetic Conditions (Down Syndrome, Turner Syndrome, Myotonic Dystrophy), Metabolic Disorders (Diabetes Mellitus, Hypoglycemia, Hypocalcemia, Galactosemia, Fabry Disease, Zellweger Syndrome, Hypoparathyroidism, Lowe Syndrome), Drug-Induced Cataracts (Steroids, Miotics, Chlorpromazine, Amiodarone). […] Pediatric cataracts exhibit a wide range of etiologies and manifestations. A thorough evaluation is thus necessary to identify underlying causes, which can significantly impact management and treatment strategies. Recognizing whether the cataracts are unilateral or bilateral and understanding the potential systemic associations are crucial for providing comprehensive care and improving outcomes for affected children.
  • #27 Cataracts in Children – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=cataracts-in-children-90-P02105
    Cataracts may happen when the protein that makes up the lens gets cloudy. This affects your childs vision. […] Some babies are born with cataracts or get them in childhood. These often happen in both eyes. This type of cataract may not affect your childs vision. Those that do often need to be removed. […] These cataracts form because of another illness. This can include diabetes or an eye problem. In some cases, medicine such as steroids can cause this type of cataract. […] A child may be born with a cataract (congenital). Or it may develop later in life (acquired). The following may cause cataracts: Injury, Diabetes, Poisoning, Steroid use, Other illnesses, such as rheumatoid arthritis, Complications from other eye diseases, such as glaucoma. […] Most cataracts that children are born with happen along with other eye or health problems. This type of cataract may be from genetic factors. This can include a metabolic disorder caused by an inherited enzyme deficiency. It can also happen because of a chromosome problem, such as Down syndrome.
  • #28 Causes Of Cataracts | Understanding What Causes Cataracts
    https://bestcataractsurgeons.com/causes-of-cataracts/
    The most common medication that causes cataracts are oral, intravenous, and inhaled steroids. This type of cataract typically forms within 5-10 years of medication use and is most commonly termed a posterior subcapsular cataract. […] Blunt forces to the eye or surrounding face can cause a special type of traumatic cataract called a “stellate cataract”. As the proteins within the natural lens undergo extreme pressure and movement they begin to cloud and swell. […] The list of medical conditions that can cause a cataract is extensive, but the most common medical condition that causes cataracts is diabetes. As the bloodstream takes on more glucose, the lens begins to change its energy demands. This leads to swelling within the lens and changes to its shape and size, leading to cataract development. This type of cataract is termed a “snowflake” cataract.
  • #29 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Causes of Bilateral Congenital Cataracts include: Idiopathic Causes (60%), Hereditary Causes (30%), Autosomal Dominant (75%, most common), Autosomal Recessive, X-linked, Intrauterine infection (TORCH infections), Multisystem genetic disorder, Inborn errors of metabolism, Endocrinopathies, Trauma, Uveitic cataract, Ocular Abnormalities, Genetic Conditions (Down Syndrome, Turner Syndrome, Myotonic Dystrophy), Metabolic Disorders (Diabetes Mellitus, Hypoglycemia, Hypocalcemia, Galactosemia, Fabry Disease, Zellweger Syndrome, Hypoparathyroidism, Lowe Syndrome), Drug-Induced Cataracts (Steroids, Miotics, Chlorpromazine, Amiodarone). […] Pediatric cataracts exhibit a wide range of etiologies and manifestations. A thorough evaluation is thus necessary to identify underlying causes, which can significantly impact management and treatment strategies. Recognizing whether the cataracts are unilateral or bilateral and understanding the potential systemic associations are crucial for providing comprehensive care and improving outcomes for affected children.
  • #30 Causes Of Cataracts | Understanding What Causes Cataracts
    https://bestcataractsurgeons.com/causes-of-cataracts/
    The most common medication that causes cataracts are oral, intravenous, and inhaled steroids. This type of cataract typically forms within 5-10 years of medication use and is most commonly termed a posterior subcapsular cataract. […] Blunt forces to the eye or surrounding face can cause a special type of traumatic cataract called a “stellate cataract”. As the proteins within the natural lens undergo extreme pressure and movement they begin to cloud and swell. […] The list of medical conditions that can cause a cataract is extensive, but the most common medical condition that causes cataracts is diabetes. As the bloodstream takes on more glucose, the lens begins to change its energy demands. This leads to swelling within the lens and changes to its shape and size, leading to cataract development. This type of cataract is termed a “snowflake” cataract.
  • #31 Content – Health Encyclopedia – University of Rochester Medical Center
    https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02105
    Cataracts may happen when the protein that makes up the lens gets cloudy. […] Some babies are born with cataracts or get them in childhood. […] These cataracts form because of an illness. This can include diabetes or an eye problem. […] Cataracts can also happen because of an eye injury. […] Some cataracts start after exposure to some types of radiation. […] A child may be born with a cataract (congenital). Or it may develop later in life (acquired). The following may cause cataracts: Injury, Diabetes, Poisoning, Steroid use, Other illnesses, such as rheumatoid arthritis, Complications from other eye diseases, such as glaucoma. […] Most cataracts in children happen along with other eye or health problems. This type of cataract may be from genetic factors. These can include a metabolic disorder caused by an inherited enzyme deficiency. Cataracts can also happen because of a chromosomal difference, such as Down syndrome.
  • #32 Cataracts In Children: Causes And Treatment Options – Klarity Health Library
    https://my.klarity.health/cataracts-in-children-causes-and-treatment-options/
    For congenital cataracts, there is an abnormality with part of the genetic material of the child. This means the information the body needs to construct the eye lens is missing, which causes the cataract in the lens. […] This occurs when there is a genetic mutation that is either inherited from parents, or that occurs at an early stage of development. A wide variety of gene mutations can be implicated in this. […] Exposure to a particular range of infections, known as the TORCH group, can increase the chance of developmental problems in babies in the womb. One of these issues are congenital cataracts. […] Injury can also occur from a non-physical stimulus, such as exposure to radiation and laser photocoagulation. […] A cataract in a child may indicate other underlying issues affecting the eyes, such as: Microphthalmia, Aniridia, Peters anomaly, Cat eye syndrome, Long term eye inflammation (uveitis).
  • #33 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Cataracts-in-Children.aspx
    Cataract may also be formed due to intrauterine infections such as rubella, herpes simplex, toxoplasmosis, varicella, and syphilis. Bilateral cataracts affecting both the eyes have been associated with a number of other genetic disorders. Unilateral cataract may be developed due to a disease or infection the child picks up or could be caused by trauma.
  • #34
    https://www.nhs.uk/conditions/childhood-cataracts/causes/
    The main infections linked to an increased risk of congenital cataracts include: rubella (german measles) a viral infection that can cause a red-pink spotty skin rash, toxoplasmosis a parasitic infection caught by consuming food, water or soil contaminated with infected cat’s faeces, cytomegalovirus (CMV) a common virus that can cause flu-like symptoms, chickenpox a mild but highly infectious condition caused by the varicella-zoster virus, herpes simplex virus a virus that often causes cold sores. […] Causes of this type of cataracts can include: galactosaemia where the sugar galactose (which mainly comes from lactose, the sugar in milk) cannot be broken down by the body, diabetes a lifelong condition that causes a person’s blood sugar level to become too high, eye trauma as a result of an injury to the eye or eye surgery, toxocariasis a rare parasitic infection that can sometimes infect the eyes, spread from animals to humans via their infected faeces. […] But most of these problems are either rare or do not usually cause cataracts to develop in children.
  • #35 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    A cataract is any light scattering opacity of the lens. It is estimated that congenital cataracts are responsible for 5% to 20% of blindness in children worldwide. Incidence varies from country to country. One retrospective study of the prevalence of infantile cataracts in the U.S. showed a rate of 3-4 visually significant cataracts per 10,000 live births. This is a similar rate to a U.K. study which showed 3.18 per 10,000. These numbers underestimate the total number since they do not take into consideration visually insignificant cataracts. […] The causes of infantile cataracts have been the source of much speculation and research. Making a distinction between unilateral and bilateral cataracts may be useful when considering etiology. […] The majority of bilateral congenital or infantile cataracts not associated with a syndrome have no identifiable cause. Genetic mutation is likely the most common cause. Over fifteen genes involved in cataract formation have been identified, and the inheritance is most often autosomal dominant although it can be X-linked or autosomal recessive. Within the same pedigree, there can be considerable morphologic variation.
  • #36 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Causes of Bilateral Congenital Cataracts include: Idiopathic Causes (60%), Hereditary Causes (30%), Autosomal Dominant (75%, most common), Autosomal Recessive, X-linked, Intrauterine infection (TORCH infections), Multisystem genetic disorder, Inborn errors of metabolism, Endocrinopathies, Trauma, Uveitic cataract, Ocular Abnormalities, Genetic Conditions (Down Syndrome, Turner Syndrome, Myotonic Dystrophy), Metabolic Disorders (Diabetes Mellitus, Hypoglycemia, Hypocalcemia, Galactosemia, Fabry Disease, Zellweger Syndrome, Hypoparathyroidism, Lowe Syndrome), Drug-Induced Cataracts (Steroids, Miotics, Chlorpromazine, Amiodarone). […] Pediatric cataracts exhibit a wide range of etiologies and manifestations. A thorough evaluation is thus necessary to identify underlying causes, which can significantly impact management and treatment strategies. Recognizing whether the cataracts are unilateral or bilateral and understanding the potential systemic associations are crucial for providing comprehensive care and improving outcomes for affected children.
  • #37 Congenital Cataract: Background, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1210837-overview
    A cataract is an opacification of the crystalline lens. Congenital or infantile cataracts are present within the first year of life. […] Unilateral cataracts usually are the result of isolated, sporadic incidents. They can be associated with ocular developmental abnormalities (eg, posterior lenticonus, persistent fetal vasculature, anterior segment dysgenesis, posterior pole tumors). […] Bilateral cataracts may be inherited or associated with systemic disease. Therefore, a systemic work up with genetic, metabolic, and infectious testing may be considered. Associated diseases include chromosomal trisomies (eg, Down, Edward, and Patau syndromes), metabolic conditions (eg, diabetes, hypoglycemia, and galactosemia), Lowe syndrome, and congenital infections (eg, toxoplasmosis, rubella, cytomegalovirus, and herpes simplex [TORCH]). Most unilateral cases and approximately half of all bilateral cases are idiopathic.
  • #38 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Causes of Bilateral Congenital Cataracts include: Idiopathic Causes (60%), Hereditary Causes (30%), Autosomal Dominant (75%, most common), Autosomal Recessive, X-linked, Intrauterine infection (TORCH infections), Multisystem genetic disorder, Inborn errors of metabolism, Endocrinopathies, Trauma, Uveitic cataract, Ocular Abnormalities, Genetic Conditions (Down Syndrome, Turner Syndrome, Myotonic Dystrophy), Metabolic Disorders (Diabetes Mellitus, Hypoglycemia, Hypocalcemia, Galactosemia, Fabry Disease, Zellweger Syndrome, Hypoparathyroidism, Lowe Syndrome), Drug-Induced Cataracts (Steroids, Miotics, Chlorpromazine, Amiodarone). […] Pediatric cataracts exhibit a wide range of etiologies and manifestations. A thorough evaluation is thus necessary to identify underlying causes, which can significantly impact management and treatment strategies. Recognizing whether the cataracts are unilateral or bilateral and understanding the potential systemic associations are crucial for providing comprehensive care and improving outcomes for affected children.
  • #39 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    Systemic associations include metabolic disorders such as galactosemia, Wilson disease, hypocalcemia and diabetes. Cataracts may be a part of a number of syndromes, the most common being trisomy 21. Intrauterine infections including rubella, herpes simplex, toxoplasmosis, varicella and syphilis are another cause. […] In contrast, most unilateral cataracts are not inherited or associated with a systemic disease and are of unknown etiology although they do not rule out the possibility of an associated systemic disease. They are usually the result of local dysgenesis and may be associated with other ocular dysgenesis such as persistent fetal vasculature (PFV), posterior lenticonus or lentiglobus. […] Trauma is a known cause of pediatric cataracts. If there is no known history of trauma to explain an acquired cataract in this age group, investigation must be considered in children who present with other signs suggestive of child abuse. […] Regardless of the etiology, prompt treatment of visually significant cataracts is necessary to allow proper development of vision.
  • #40 Congenital Cataract: Background, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1210837-overview
    A cataract is an opacification of the crystalline lens. Congenital or infantile cataracts are present within the first year of life. […] Unilateral cataracts usually are the result of isolated, sporadic incidents. They can be associated with ocular developmental abnormalities (eg, posterior lenticonus, persistent fetal vasculature, anterior segment dysgenesis, posterior pole tumors). […] Bilateral cataracts may be inherited or associated with systemic disease. Therefore, a systemic work up with genetic, metabolic, and infectious testing may be considered. Associated diseases include chromosomal trisomies (eg, Down, Edward, and Patau syndromes), metabolic conditions (eg, diabetes, hypoglycemia, and galactosemia), Lowe syndrome, and congenital infections (eg, toxoplasmosis, rubella, cytomegalovirus, and herpes simplex [TORCH]). Most unilateral cases and approximately half of all bilateral cases are idiopathic.
  • #41
    https://journals.lww.com/ijo/fulltext/2022/07000/north_india_childhood_cataract_study___the_real.30.aspx
    In our study, the cause of pediatric cataracts could not be identified in 66.29% of children. Various studies in different parts of India have also shown pediatric cataracts to be idiopathic in 24%73% of cases, making idiopathic the most common cause of childhood cataracts. […] Another important cause of childhood cataracts is intra-uterine infections. 4.49% of children in our study had congenital rubella syndrome. […] Stress in the perinatal period is also an important cause of developing cataracts in childhood. In our patients, two children (2.25%) had a history of septic shock in the immediate postpartum period. […] The major cause of surgical delay was the long general anesthesia (GA) waiting time in 27 patients. Other important causes were systemic ill-health of the child, parents seeking a second opinion, parental reluctance for surgery, and the cost of the surgery. […] The contributory factors for delay in presentation in pediatric cataracts were evaluated in an eastern African study: developmental cataracts, far distance from the hospital and low socio-educational status of the mother.
  • #42
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/
    The proportion of cataract due to genetic mutations is likely higher than we think because many patients are not tested and there are more cataract causing genes to be discovered. […] Genetic mutations in over 10 membrane protein genes lead to inappropriate transport of ions, solutes and water between cells in the human lens. […] Mutations in genes encoding major intrinsic proteins account for 5% of all inherited cataract. […] Genetic testing is a key investigation for congenital cataracts, and recent studies have shown molecular diagnostic rates between 50% and 90% for bilateral cases.
  • #43
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/
    The proportion of cataract due to genetic mutations is likely higher than we think because many patients are not tested and there are more cataract causing genes to be discovered. […] Genetic mutations in over 10 membrane protein genes lead to inappropriate transport of ions, solutes and water between cells in the human lens. […] Mutations in genes encoding major intrinsic proteins account for 5% of all inherited cataract. […] Genetic testing is a key investigation for congenital cataracts, and recent studies have shown molecular diagnostic rates between 50% and 90% for bilateral cases.
  • #44
    https://www.sightsaversusa.org/eye-conditions/cataracts/childhood-cataracts/
    Cataracts are one of the leading causes of visual impairment and blindness in children. […] Not all cataracts in babies and children have a known cause. Most unilateral cataracts are not related to illness or injury, while bilateral cataracts are more likely to be inherited or caused by an illness. […] Risk factors for childhood cataracts include: Genetics: if a parent or close family member had cataracts in childhood, a baby is more likely to be born with them or develop them in childhood […] Certain illnesses or infection in utero: while rare, maternal illness can affect a babys development in the womb. Rubella is the most common cause of congenital cataracts. […] Injury or trauma: a sharp or dull impact to the eye can damage the lens and cause a cataract to form.
  • #45
    https://journals.lww.com/ijo/fulltext/2022/07000/north_india_childhood_cataract_study___the_real.30.aspx
    In our study, the cause of pediatric cataracts could not be identified in 66.29% of children. Various studies in different parts of India have also shown pediatric cataracts to be idiopathic in 24%73% of cases, making idiopathic the most common cause of childhood cataracts. […] Another important cause of childhood cataracts is intra-uterine infections. 4.49% of children in our study had congenital rubella syndrome. […] Stress in the perinatal period is also an important cause of developing cataracts in childhood. In our patients, two children (2.25%) had a history of septic shock in the immediate postpartum period. […] The major cause of surgical delay was the long general anesthesia (GA) waiting time in 27 patients. Other important causes were systemic ill-health of the child, parents seeking a second opinion, parental reluctance for surgery, and the cost of the surgery. […] The contributory factors for delay in presentation in pediatric cataracts were evaluated in an eastern African study: developmental cataracts, far distance from the hospital and low socio-educational status of the mother.
  • #46 Congenital cataracts | March of Dimes
    https://www.marchofdimes.org/find-support/topics/planning-baby/congenital-cataracts
    A congenital cataract is a rare birth defect of the eye that can cause vision problems or blindness. A congenital cataract happens when the lens of the eye is cloudy instead of clear. A baby may have a cataract in one or both eyes. […] We dont know what causes most congenital cataracts. More research is needed, but some causes may include: […] Changes in genes or chromosomes. Some babies have birth defects because of changes in their genes (also called mutations) or changes in their chromosomes. […] Injury during pregnancy. Physical trauma during pregnancy may cause injury to a babys eyes in the womb and lead to congenital cataracts. […] Having hypoglycemia during pregnancy. This is when your blood sugar levels (also called glucose levels) fall too low. […] Preterm birth. This is birth that happens too early, before 37 weeks of pregnancy.
  • #47 Congenital Cataracts: Causes, Symptoms, and Treatments
    https://www.thenewyorkeyedoctor.com/post/causes-symptoms-and-treatments-of-congenital-cataracts.html
    When children are born with cataracts, the condition may be hereditary. Cataracts may also develop due to metabolic problems, infections, diabetes, or drug reactions. Sometimes, cataracts are caused by trauma, inflammation, or Down syndrome. […] Medications such as antibiotics taken during pregnancy to treat infections may cause cataracts in newborns. The medications help treat chicken pox, measles, herpes, influenza, syphilis, toxoplasmosis, and poliomyelitis.
  • #48 What Causes Early Onset Cataracts? | Medical Optometry
    https://www.northparkvision.com/what-causes-early-onset-cataracts/
    Children, teens and young adults are prone to accidents, and a cataract can form in the eye after a traumatic injury to an eye. […] According to a 2018 study in Eye, diabetics have twice the risk of developing cataracts. […] Certain drugs, such as steroids and statins, may increase the chances of developing cataracts at a relatively young age. […] According to the International Atomic Energy Agency, people who are exposed to low-dose ionizing radiation may have a higher risk of developing early cataracts. […] Certain lifestyle factors may be associated with the early onset of cataracts, including: Obesity, Smoking, Direct exposure to UV rays.
  • #49 Cataracts in children
    https://visioneyeinstitute.com.au/eyematters/cataracts-and-children/
    Cataracts present at birth are known as congenital cataracts. It is estimated that approximately 25% of congenital cataracts have a genetic cause. For example, one parent may have been born with a cataract in one or both eyes. Cataracts are also associated with genetic disorders like metabolic, hormonal or chromosomal abnormalities (e.g. trisomy 21) and infections during pregnancy, such as rubella. Congenital cataracts can also occur when the lens hasn’t formed correctly. This may be the result of abnormal interactions amongst the proteins that make up the lens of the eye. These can go on to cause specks and clumping that can create cloudy areas. […] Children can also develop cataracts after birth (acquired). Acquired cataracts can be caused by: […] Use of steroids in oral, eye drop and ointment form (prednisolone) […] Eye trauma […] Diabetes and other metabolic diseases […] A complication of other diseases, such as eye inflammation (uveitis) or rheumatoid arthritis […] Radiation therapy after cancer.
  • #50 What Causes Early Onset Cataracts? | Medical Optometry
    https://www.northparkvision.com/what-causes-early-onset-cataracts/
    Children, teens and young adults are prone to accidents, and a cataract can form in the eye after a traumatic injury to an eye. […] According to a 2018 study in Eye, diabetics have twice the risk of developing cataracts. […] Certain drugs, such as steroids and statins, may increase the chances of developing cataracts at a relatively young age. […] According to the International Atomic Energy Agency, people who are exposed to low-dose ionizing radiation may have a higher risk of developing early cataracts. […] Certain lifestyle factors may be associated with the early onset of cataracts, including: Obesity, Smoking, Direct exposure to UV rays.
  • #51 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #52 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #53 American Association for Pediatric Ophthalmology and Strabismus
    https://www.healio.com/news/ophthalmology/20210409/systemic-hereditary-causes-identified-in-pediatric-bilateral-cataract-cases
    In children with bilateral cataracts, systemic and hereditary causes were more often identified than in unilateral cases, in which ocular associations were more often made, according to a study. […] Cause of cataract was identified in 66% of patients in the bilateral cataract group and in 55% in the unilateral cataract group. Heredity causes (21.8%), syndromic/genetic/metabolic causes (23.8%) and treatment for cancer or systemic steroid treatment (14.7%) accounted for cataract in the majority of the 408 children with bilateral cataracts. […] In the bilateral cases, Down syndrome (5.6%), Lowe syndrome (1.7%) and Marfan syndrome (4.2%) were the most prevalent systemic anomalies. […] Clinicians should be more aware of systemic diagnoses among children to guide systemic workup, provide framework for follow-up of such patients and for prediction of development of cataract in the fellow eye, Nihalani-Gangwani and colleagues said.
  • #54 Etiology and Morphology of Pediatric Cataracts | Ento Key
    https://entokey.com/etiology-and-morphology-of-pediatric-cataracts/
    Etiology and Morphology of Pediatric Cataracts M. Edward Wilson Rupal H. Trivedi Suresh K. Pandey William J. Johnson Childhood cataracts can be classified as congenital, infantile, or juvenile, depending on the age at onset. […] Childhood cataracts can also be classified according to etiology (e.g., hereditary cataract, traumatic cataract) or morphology. […] The common teaching for many years has been that roughly one-third of childhood cataracts are inherited, one-third are associated with other diseases or syndromes, and the remaining one-third are idiopathic. However, the rate of idiopathic congenital cataracts has been reported as high as two-thirds. […] The etiology of pediatric cataracts can be broadly classified and summarized in the following subgroups. […] Hereditary cataracts are passed from one generation to the next. Autosomal dominant transmission is responsible for 75% of congenital hereditary cataracts. […] There are also a number of rare hereditary syndromes in which the affected individual not only has cataracts but also has an associated systemic illness.
  • #55 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology
    https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377
    Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. […] Many genes have been identified in the molecular etiology of congenital cataract. Most mutations have been reported in the crystallin genes. […] Although most cases of congenital cataract were idiopathic (62.2%), the prevalence of inherited cataract was reported to be 22.3%. […] Twenty-nine percent of congenital cataract cases may be linked to genetic causes, while unilateral cases are more likely to be idiopathic. […] Pediatric cataracts can be classified into two main groups, hereditary and nonhereditary. […] Hereditary pediatric cataracts may be associated with metabolic diseases (e.g., galactosemia, Wilsons disease, diabetes, cerebrotendinous xanthomatosis, Fabry disease, mannosidosis, Refsum disease)
  • #56 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology
    https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377
    Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. […] Many genes have been identified in the molecular etiology of congenital cataract. Most mutations have been reported in the crystallin genes. […] Although most cases of congenital cataract were idiopathic (62.2%), the prevalence of inherited cataract was reported to be 22.3%. […] Twenty-nine percent of congenital cataract cases may be linked to genetic causes, while unilateral cases are more likely to be idiopathic. […] Pediatric cataracts can be classified into two main groups, hereditary and nonhereditary. […] Hereditary pediatric cataracts may be associated with metabolic diseases (e.g., galactosemia, Wilsons disease, diabetes, cerebrotendinous xanthomatosis, Fabry disease, mannosidosis, Refsum disease)
  • #57 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Causes of Bilateral Congenital Cataracts include: Idiopathic Causes (60%), Hereditary Causes (30%), Autosomal Dominant (75%, most common), Autosomal Recessive, X-linked, Intrauterine infection (TORCH infections), Multisystem genetic disorder, Inborn errors of metabolism, Endocrinopathies, Trauma, Uveitic cataract, Ocular Abnormalities, Genetic Conditions (Down Syndrome, Turner Syndrome, Myotonic Dystrophy), Metabolic Disorders (Diabetes Mellitus, Hypoglycemia, Hypocalcemia, Galactosemia, Fabry Disease, Zellweger Syndrome, Hypoparathyroidism, Lowe Syndrome), Drug-Induced Cataracts (Steroids, Miotics, Chlorpromazine, Amiodarone). […] Pediatric cataracts exhibit a wide range of etiologies and manifestations. A thorough evaluation is thus necessary to identify underlying causes, which can significantly impact management and treatment strategies. Recognizing whether the cataracts are unilateral or bilateral and understanding the potential systemic associations are crucial for providing comprehensive care and improving outcomes for affected children.
  • #58 Congenital Cataracts | Consultant360
    https://www.consultant360.com/articles/congenital-cataracts
    Her history was significant for congenital bilateral cataracts; according to the child’s maternal grandmother, the suspected etiology of the cataracts was congenital rubella, based on the grandmother’s lack of immunity at the time of birth. […] The cataracts etiology was suspected to be genetic; nevertheless, further testing was done to rule out infectious and metabolic causes. […] Infectious causes of congenital cataracts include toxoplasmosis, cytomegalovirus, syphilis, rubella, herpes simplex virus, measles, polio, influenza, and varicella-zoster virus. […] The most common metabolic cause of cataracts is galactosemia (types 1-3).
  • #59 Cataracts In Children: Causes And Treatment Options – Klarity Health Library
    https://my.klarity.health/cataracts-in-children-causes-and-treatment-options/
    Many childhood cataracts are a symptom of an underlying disorder that can affect other parts of the body including: Skin disorders such as progeria, ichthyosis and ectodermal dysplasia; Heart disorders such as hypertrophic cardiomyopathy; Neurological problems including Zellweger syndrome and Meckel-Gruber syndrome; Bone and musculoskeletal disorders such as Smith-Lemli-Opitz syndrome, Marfan syndrome and Conradi-Hnermann syndrome; Kidney disorders such as Lowe syndrome; Dental disorders such as Cenani-Lenz syndrome; Metabolic disorders such as galactosemia.
  • #60 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Pediatric cataracts may be congenital, arising from genetic or pregnancy-related conditions, such as maternal infections, or acquired during the postnatal period. […] The causes of pediatric cataracts are diverse and can range from being idiopathic to being associated with systemic disorders. Pediatric cataracts can be unilateral or bilateral, with most unilateral and some bilateral cases being idiopathic. […] Causes of Congenital Cataracts include: Idiopathic, Intrauterine infection (TORCH infections), Drug-induced (Corticosteroids), Metabolic disorders (Galactosemia, Galactokinase deficiency, Hypocalcemia, Hypoglycemia), Trauma (Accidental, Non-accidental, Radiation, Laser photocoagulation), Other associated ocular diseases (Microphthalmia, Microcornea, Aniridia, Persistent hyperplastic primary vitreous (PHPV), Peter anomaly, Corneal guttae, Coloboma), Inherited without systemic abnormalities (Autosomal dominant, Autosomal recessive, X-linked), Associated with systemic abnormalities (Chromosomal abnormalities such as Trisomy 21, Turner syndrome, Trisomy 13, Trisomy 18, Cri-du-chat syndrome, Cerebrooculofacialskeletal syndrome (COFS), Mitochondrial abnormalities, Renal disease (Lowe syndrome), Skeletal disease (Smith-Lemli-Opitz, Conradi syndrome, Weill-Marchesani syndrome), Syndactyly, polydactyly, or digital abnormalities (Bardet-Biedl syndrome, Rubenstein-Taybi syndrome), Central nervous system abnormalities (Zellweger syndrome, Meckel-Gruber syndrome), Cardiac disease (Hypertrophic cardiomyopathy), Dermatological (Cockayne syndrome, Rothmund-Thomson, Atopic dermatitis, Incontinentia pigmenti, Progeria, Ichthyosis, Ectodermal dysplasia), Dental Anomalies (Nance-Horan syndrome, Lenz syndrome).
  • #61 Congenital Cataract: Background, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1210837-overview
    Any insult (eg, metabolic, infectious, traumatic) to the nuclear or lenticular fibers may result in an opacity of the clear lenticular media. The location and pattern of this opacification may be used to determine the timing of the insult as well as the etiology. […] A 2020 review of the genetics of congenital cataracts found that genetic defects are responsible for approximately one fourth of congenital cataracts. Multiple mutations have been identified in upwards of 100 genes associated with congenital cataracts.
  • #62 Congenital Cataract: Background, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1210837-overview
    Any insult (eg, metabolic, infectious, traumatic) to the nuclear or lenticular fibers may result in an opacity of the clear lenticular media. The location and pattern of this opacification may be used to determine the timing of the insult as well as the etiology. […] A 2020 review of the genetics of congenital cataracts found that genetic defects are responsible for approximately one fourth of congenital cataracts. Multiple mutations have been identified in upwards of 100 genes associated with congenital cataracts.
  • #63
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/
    Worldwide 20,00040,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. […] In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. […] Cataract occurring in children has many different causes, which may include infections passed from mother to child during pregnancy, trauma, medications and exposure to radiation. […] In most cases of cataract occurring in both eyes, a genetic cause can be found which may be inherited from parents or occur sporadically in the developing baby itself while in the womb. […] Approximately 50% of non-syndromic hereditary cataract are due to mutations in genes coding for crystallin proteins with over 100 mutations, mostly missense, encoding 12 different human , and -crystallin genes.
  • #64 5 Causes of Cataracts in Children, Congenital Cataracts – Rumah Sakit Mata JEC
    https://jec.co.id/en/article/5-causes-of-cataracts-in-children-congenital-cataracts
    Cataracts in children can also occur in children regardless of age because it often occurs when a baby is born which is rarely realized. […] Congenital cataracts are abnormalities that are commonly found in the lens with cloudiness around the lens that makes it difficult for babies to see clearly. […] The following are 5 causes of congenital cataracts that you should know: Hereditary factors are related to the content that plays a major role in the formation of natural lenses such as proteins in pregnant women which can sometimes be infected and cause DNA changes that account for about 23% of the causes of cataracts. […] Disease factors suffered by the mother such as low blood sugar, lack of oxygen, and hypothermia. […] Infectious factors in the body attack pregnant women such as chickenpox, influenza, and polio as well as metabolic disorders. […] Factors that occur in infants such as babies born prematurely usually contribute to the occurrence of cataracts. […] Consumption of certain types of drugs during pregnancy that can cause cataracts, such as tetracycline.
  • #65 Causes of Cataracts in Children & How it Affects Your Child’s Vision | MedCells Cord Blood Banking
    https://www.medcells.ae/causes-of-cataracts-in-children-how-it-affects-your-childs-vision/
    These cataracts form when there is an abnormal interaction between the proteins that the body uses to make up the lens. Over a period of time, these interactions can cause cloudy areas to form in the eye. […] There are a number of ways in which acquired cataracts can be caused, including: Eye trauma, Diabetes, Using steroids, Complications from other eye diseases or treatment. […] Despite often being able to identify the cause, there are some cases where there is an unknown cause.
  • #66 Causes Of Cataracts | Understanding What Causes Cataracts
    https://bestcataractsurgeons.com/causes-of-cataracts/
    The most common medication that causes cataracts are oral, intravenous, and inhaled steroids. This type of cataract typically forms within 5-10 years of medication use and is most commonly termed a posterior subcapsular cataract. […] Blunt forces to the eye or surrounding face can cause a special type of traumatic cataract called a “stellate cataract”. As the proteins within the natural lens undergo extreme pressure and movement they begin to cloud and swell. […] The list of medical conditions that can cause a cataract is extensive, but the most common medical condition that causes cataracts is diabetes. As the bloodstream takes on more glucose, the lens begins to change its energy demands. This leads to swelling within the lens and changes to its shape and size, leading to cataract development. This type of cataract is termed a “snowflake” cataract.
  • #67 Causes Of Cataracts | Understanding What Causes Cataracts
    https://bestcataractsurgeons.com/causes-of-cataracts/
    The most common medication that causes cataracts are oral, intravenous, and inhaled steroids. This type of cataract typically forms within 5-10 years of medication use and is most commonly termed a posterior subcapsular cataract. […] Blunt forces to the eye or surrounding face can cause a special type of traumatic cataract called a “stellate cataract”. As the proteins within the natural lens undergo extreme pressure and movement they begin to cloud and swell. […] The list of medical conditions that can cause a cataract is extensive, but the most common medical condition that causes cataracts is diabetes. As the bloodstream takes on more glucose, the lens begins to change its energy demands. This leads to swelling within the lens and changes to its shape and size, leading to cataract development. This type of cataract is termed a “snowflake” cataract.
  • #68
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10032449/
    The proportion of cataract due to genetic mutations is likely higher than we think because many patients are not tested and there are more cataract causing genes to be discovered. […] Genetic mutations in over 10 membrane protein genes lead to inappropriate transport of ions, solutes and water between cells in the human lens. […] Mutations in genes encoding major intrinsic proteins account for 5% of all inherited cataract. […] Genetic testing is a key investigation for congenital cataracts, and recent studies have shown molecular diagnostic rates between 50% and 90% for bilateral cases.
  • #69 Congenital Cataract: Background, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/1210837-overview
    Any insult (eg, metabolic, infectious, traumatic) to the nuclear or lenticular fibers may result in an opacity of the clear lenticular media. The location and pattern of this opacification may be used to determine the timing of the insult as well as the etiology. […] A 2020 review of the genetics of congenital cataracts found that genetic defects are responsible for approximately one fourth of congenital cataracts. Multiple mutations have been identified in upwards of 100 genes associated with congenital cataracts.
  • #70 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology
    https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377
    Non-hereditary pediatric cataracts may occur due to trauma, congenital infections such as TORCH (toxoplasma, rubella, cytomegalovirus, herpes simplex), drugs such as steroids, radiation, or teratogen exposure. […] Determining the molecular etiology of congenital cataract is essential both to identify and better understand the pathways involved in its pathogenesis and to provide individualized genetic counseling. […] It has been shown that 47% of unilateral congenital cataracts and 61% of bilateral congenital cataracts are isolated, and the frequency of association with systemic diseases is 6% in unilateral and 25% in bilateral cases. […] Approximately half of congenital cataracts have a genetic etiology. […] The etiology of isolated congenital cataract is unknown in 50% of cases, but up to 30% are monogenic and generally have autosomal dominant inheritance.
  • #71 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing – Turkish Journal of Ophthalmology
    https://www.oftalmoloji.org/articles/congenital-cataract-and-its-genetics-the-era-of-next-generation-sequencing/doi/tjo.galenos.2020.08377
    Congenital cataract can also occur due to physical and environmental factors such as infections and teratogens. […] Many factors, including socio-cultural-economic background, race-specific genetic traits, the frequency of consanguineous marriage, and differences in vaccination and screening programs, result in population-specific patterns of congenital cataract prevalence and molecular etiology.
  • #72 Congenital cataracts | March of Dimes
    https://www.marchofdimes.org/find-support/topics/planning-baby/congenital-cataracts
    Getting infections during pregnancy. You can pass certain infections to your baby during pregnancy that may cause birth defects and other health problems in your baby. […] Infections caused by herpes viruses. Herpes viruses are a group of viruses that can cause many different infections. […] Other infections that may be linked to congenital cataracts include: […] Congenital cataracts cant always be prevented. But heres what you can do to help reduce your babys risk of having congenital cataracts: […] If you, your partner, your children or someone in your families has a birth defect of the eye, you may want to see a genetic counselor.
  • #73
    https://myhealth.alberta.ca/Health/pages/conditions.aspx?hwid=tx4356
    Cataracts are rare in babies and children. But children may be born with cataracts or develop them as a baby, child, or adolescent. Some things that may cause cataracts in a child include genetics, infection during pregnancy, low birth weight, an eye injury, and some medicines. […] Early treatment is best. Having cataract surgery in the first few months of life can lower a child’s risk of having other vision problems.
  • #74 Pediatric Cataract – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK572080/
    Causes of Bilateral Congenital Cataracts include: Idiopathic Causes (60%), Hereditary Causes (30%), Autosomal Dominant (75%, most common), Autosomal Recessive, X-linked, Intrauterine infection (TORCH infections), Multisystem genetic disorder, Inborn errors of metabolism, Endocrinopathies, Trauma, Uveitic cataract, Ocular Abnormalities, Genetic Conditions (Down Syndrome, Turner Syndrome, Myotonic Dystrophy), Metabolic Disorders (Diabetes Mellitus, Hypoglycemia, Hypocalcemia, Galactosemia, Fabry Disease, Zellweger Syndrome, Hypoparathyroidism, Lowe Syndrome), Drug-Induced Cataracts (Steroids, Miotics, Chlorpromazine, Amiodarone). […] Pediatric cataracts exhibit a wide range of etiologies and manifestations. A thorough evaluation is thus necessary to identify underlying causes, which can significantly impact management and treatment strategies. Recognizing whether the cataracts are unilateral or bilateral and understanding the potential systemic associations are crucial for providing comprehensive care and improving outcomes for affected children.
  • #75 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    Systemic associations include metabolic disorders such as galactosemia, Wilson disease, hypocalcemia and diabetes. Cataracts may be a part of a number of syndromes, the most common being trisomy 21. Intrauterine infections including rubella, herpes simplex, toxoplasmosis, varicella and syphilis are another cause. […] In contrast, most unilateral cataracts are not inherited or associated with a systemic disease and are of unknown etiology although they do not rule out the possibility of an associated systemic disease. They are usually the result of local dysgenesis and may be associated with other ocular dysgenesis such as persistent fetal vasculature (PFV), posterior lenticonus or lentiglobus. […] Trauma is a known cause of pediatric cataracts. If there is no known history of trauma to explain an acquired cataract in this age group, investigation must be considered in children who present with other signs suggestive of child abuse. […] Regardless of the etiology, prompt treatment of visually significant cataracts is necessary to allow proper development of vision.
  • #76 Cataracts in Children, Congenital and Acquired – EyeWiki
    https://eyewiki.org/Cataracts_in_Children,_Congenital_and_Acquired
    Systemic associations include metabolic disorders such as galactosemia, Wilson disease, hypocalcemia and diabetes. Cataracts may be a part of a number of syndromes, the most common being trisomy 21. Intrauterine infections including rubella, herpes simplex, toxoplasmosis, varicella and syphilis are another cause. […] In contrast, most unilateral cataracts are not inherited or associated with a systemic disease and are of unknown etiology although they do not rule out the possibility of an associated systemic disease. They are usually the result of local dysgenesis and may be associated with other ocular dysgenesis such as persistent fetal vasculature (PFV), posterior lenticonus or lentiglobus. […] Trauma is a known cause of pediatric cataracts. If there is no known history of trauma to explain an acquired cataract in this age group, investigation must be considered in children who present with other signs suggestive of child abuse. […] Regardless of the etiology, prompt treatment of visually significant cataracts is necessary to allow proper development of vision.