Materiały źródłowe

• #1 Retinal Diseases: Types, Causes, Symptoms, Treatment, Outlook

  https://www.healthline.com/health/eye-health/retinal-diseases

  Retinal diseases are the most common cause of blindness in lower income countries and the second most common cause in higher income countries. […] Many different types of retinal diseases have been identified. […] Retinal diseases are conditions that affect your retina. […] Symptoms of retinal diseases can vary, but they often include: seeing floaters, seeing flashes of light, distorted or blurred vision, vision loss, vision loss only in your peripheral or central vision, poor night vision. […] Its important to seek medical attention as soon as possible if you suddenly develop: floaters, vision loss, other concerning vision-related symptoms. […] The outlook for people with retinal diseases varies widely between conditions. […] People with some conditions like a retinal detachment may have a better outlook when they’re treated quickly.

• #2 Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | Scientific Reports

  https://www.nature.com/articles/s41598-022-24636-1

  Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n=2790) followed at a single referral center. Our analysis confirms the complex genetic etiology of IRDs and reveals the high prevalence of ABCA4 and USH2A mutations. This study also uncovers genetic associations with a spectrum of clinical subgroups and highlights a valuable number of cases potentially eligible for clinical trials and, ultimately, for molecular therapies. […] Inherited retinal diseases (IRDs) constitute a large group of rare monogenic diseases that affect primarily the retina resulting in vision impairment, and often ultimately blindness. They collectively represent the leading cause of vision loss in the working-age population with a combined incidence of 1:3000. The genetic etiology of IRDs is highly heterogeneous. The extensive phenotypic overlap of IRD subtypes hinders their accurate clinical diagnosis. Genetic testing is therefore critical because it can provide differential diagnosis and improve patient management with correct prognosis, genetic counselling, and access to gene-specific therapeutic options.

• #3 Prevalence, Pattern and Risk Factors of Retinal Diseases Among an Elderly Population in Nepal: The Bhaktapur Retina Study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7399464/

  Retinal diseases are an emerging cause of visual impairment in the developing world. The aim of this study was to explore the prevalence, pattern, and risk factors of retinal diseases in Nepal. […] The prevalence of any retinal disorder was 52.37% (95% confidence interval (CI): 50.0754.66%). The prevalence of retinal disorders increased with ageing: 51.26% between 60 and 69 years and 53.05% among those age 80 years and above. […] Prevalence of retinal disorder was 52.37% at age 60 years and above. AMD, hypertensive retinopathy, ERM, BRVO, and DR were the most common retinal disorders. Retinal disorders increased with ageing. Retinal disorders were found associated with hypertension and prior cataract surgery. […] In Nepal, retinal diseases were the third leading cause of blindness in a national population-based survey conducted in 1981.

• #4 Prevalence, Pattern and Risk Factors of Retinal Diseases Among an Elderly Population in Nepal: The Bhaktapur Retina Study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7399464/

  Retinal diseases are an emerging cause of visual impairment in the developing world. The aim of this study was to explore the prevalence, pattern, and risk factors of retinal diseases in Nepal. […] The prevalence of any retinal disorder was 52.37% (95% confidence interval (CI): 50.0754.66%). The prevalence of retinal disorders increased with ageing: 51.26% between 60 and 69 years and 53.05% among those age 80 years and above. […] Prevalence of retinal disorder was 52.37% at age 60 years and above. AMD, hypertensive retinopathy, ERM, BRVO, and DR were the most common retinal disorders. Retinal disorders increased with ageing. Retinal disorders were found associated with hypertension and prior cataract surgery. […] In Nepal, retinal diseases were the third leading cause of blindness in a national population-based survey conducted in 1981.

• #5 Prevalence, Pattern and Risk Factors of Retinal Diseases Among an Elderly Population in Nepal: The Bhaktapur Retina Study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7399464/

  Retinal diseases are major challenges in Nepal, so timely interventions are essential to prevent blindness. […] The overall prevalence of retinal disorder was 52.37% of study subjects age 60 years and above. […] The prevalence of retinal diseases was 15.5% in the 6069 years age group, and 21% in those 70 years and above in a study conducted in neighbouring India. […] The risk of developing retinal disorders for those who had undergone prior cataract surgery was 1.7 times more than those who were phakic (OR, 1.71, p 0.001) and was 1.2 times higher in patients with hypertension (OR, 1.21, p=0.049) as compared to non-hypertensive patients.

• #6 The socioeconomic epidemiology of inherited retinal diseases in Portugal | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03161-6

  Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. […] According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. […] The epidemiologic landscape of IRDs is critical as they vary considerably between regions and ethnic groups. […] Epidemiological studies of IRD in Portugal are scarce. […] A recent study based on the first nationwide survey in Portugal, yet unpublished, estimated the IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals. […] The number of identified patients with IRD varied between regions. […] This study found that IRD patients live in municipalities with aged populations, which may lead to less investment or support. […] The estimated IRD prevalence varied according to the region. […] Multiple targeted vision aid and rehabilitation strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

• #7 The socioeconomic epidemiology of inherited retinal diseases in Portugal | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03161-6

  Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. […] According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. […] The epidemiologic landscape of IRDs is critical as they vary considerably between regions and ethnic groups. […] Epidemiological studies of IRD in Portugal are scarce. […] A recent study based on the first nationwide survey in Portugal, yet unpublished, estimated the IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals. […] The number of identified patients with IRD varied between regions. […] This study found that IRD patients live in municipalities with aged populations, which may lead to less investment or support. […] The estimated IRD prevalence varied according to the region. […] Multiple targeted vision aid and rehabilitation strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

• #8 Inherited retinal diseases (IRDs) | CERAInherited retinal diseases (IRDs) | CERA

  https://www.cera.org.au/conditions/inherited-retinal-diseases/

  Inherited retinal diseases (IRDs) are a broad group of genetic eye conditions that cause vision loss and sometimes, legal blindness. They can occur from birth through to late adulthood. […] IRDs are the leading cause of blindness in working age adults. Altogether, they affect around 1 in 4000 people or over 2 million people worldwide. […] CERA and the University of Melbourne are creating a national clinical database of people with IRDs. The project aims to improve understanding of IRD and find patients who are eligible for clinical trials. […] CERA is leading world-first research into gene therapies that could halt or even reverse vision loss in patients with conditions including inherited retinal diseases and glaucoma. […] Our researchers use cell reprogramming and stem cell technologies to better understand and develop treatments for vision loss, with the goal of regenerating cells in the retina.

• #9 What are Inherited Retinal Diseases (IRDs)? | Eyes On Genes

  https://www.eyesongenes.com/inherited-retinal-diseases/

  Inherited retinal diseases (IRDs) are a group of rare eye disorders caused by at least one gene not working as it should. This can lead to serious vision impairment or vision loss. IRDs typically get worse over time, and some can eventually lead to legal blindness. […] Based on global estimates, approximately 1 in 2000 people has an inherited retinal disease. Each of these people is experiencing how vision loss impacts their daily life. […] Different IRDs can have similar, overlapping symptoms. This can make diagnosing inherited retinal diseases challenging. Therefore, genetic testing has become the benchmark to uncover the genetic cause of your vision loss or impairment. […] All prevalence rates are global estimates and may vary across regions.

• #10 Increasing Incidence and Prevalence of Common Retinal Diseases in Retina Practices Across the United States – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33471912/

  To provide an updated estimate of incidence and prevalence of the foremost retinal diseases in the U.S. […] Of the 3,086,791 eyes examined, 490,881 (15.9%) had dry AMD, 294,041 (9.5%) wet AMD, 270,703 (8.8%) DME, 254,690 (8.3%) DR without DME, 73,617 (2.4%) BRVO, and 50,670 (1.6%) CRVO. Dry AMD had the highest incidence. These diseases comprised 61.0% of total prevalence and 54.3% of incidence among patients at the retina practices analyzed. […] Based on a diverse database, these diseases comprised the majority of U.S. retina practice cases, with increasing annual incidences. AMD is the most common diagnosis, then diabetic eye disease.

• #11 Increasing Incidence and Prevalence of Common Retinal Diseases in Retina Practices Across the United States – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33471912/

  To provide an updated estimate of incidence and prevalence of the foremost retinal diseases in the U.S. […] Of the 3,086,791 eyes examined, 490,881 (15.9%) had dry AMD, 294,041 (9.5%) wet AMD, 270,703 (8.8%) DME, 254,690 (8.3%) DR without DME, 73,617 (2.4%) BRVO, and 50,670 (1.6%) CRVO. Dry AMD had the highest incidence. These diseases comprised 61.0% of total prevalence and 54.3% of incidence among patients at the retina practices analyzed. […] Based on a diverse database, these diseases comprised the majority of U.S. retina practice cases, with increasing annual incidences. AMD is the most common diagnosis, then diabetic eye disease.

• #12 Increasing Incidence and Prevalence of Common Retinal Diseases in Retina Practices Across the United States – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33471912/

  To provide an updated estimate of incidence and prevalence of the foremost retinal diseases in the U.S. […] Of the 3,086,791 eyes examined, 490,881 (15.9%) had dry AMD, 294,041 (9.5%) wet AMD, 270,703 (8.8%) DME, 254,690 (8.3%) DR without DME, 73,617 (2.4%) BRVO, and 50,670 (1.6%) CRVO. Dry AMD had the highest incidence. These diseases comprised 61.0% of total prevalence and 54.3% of incidence among patients at the retina practices analyzed. […] Based on a diverse database, these diseases comprised the majority of U.S. retina practice cases, with increasing annual incidences. AMD is the most common diagnosis, then diabetic eye disease.

• #13

  https://journals.lww.com/retinajournal/fulltext/2008/05000/prevalence_of_retinal_diseases_and_their_pattern.14.aspx

  To determine the prevalence of retinal diseases and their pattern in Tehran through a population-based study. […] The prevalence of retinal diseases was 8.56 per 100 (95% CI, 7.749.39). Acquired retinopathies (3.33 per 100) and peripheral retinal lesions (3.29 per 100) were the most common retinal diseases in our population. […] The prevalence of diabetic retinopathy in the studied population was 0.61 per 100 (95% CI, 0.390.82) and age-related macular degeneration was detected in 1.95 per 100 (95% CI, 1.552.34) of the population. […] These findings reveal a considerable prevalence of retinal diseases in the population. The prevalence might be underestimated due to the lack of fundus photography. The findings could be considered for case finding and planning treatment programs for specific retinal diseases. […] The prevalence of retinal diseases and their pattern is reported in a population-based cross-sectional study in Tehran by focusing on two major retinal diseases: diabetic retinopathy and age-related macular degeneration.

• #14 Inherited retinal diseases (IRDs) | CERAInherited retinal diseases (IRDs) | CERA

  https://www.cera.org.au/conditions/inherited-retinal-diseases/

  Inherited retinal diseases (IRDs) are a broad group of genetic eye conditions that cause vision loss and sometimes, legal blindness. They can occur from birth through to late adulthood. […] IRDs are the leading cause of blindness in working age adults. Altogether, they affect around 1 in 4000 people or over 2 million people worldwide. […] CERA and the University of Melbourne are creating a national clinical database of people with IRDs. The project aims to improve understanding of IRD and find patients who are eligible for clinical trials. […] CERA is leading world-first research into gene therapies that could halt or even reverse vision loss in patients with conditions including inherited retinal diseases and glaucoma. […] Our researchers use cell reprogramming and stem cell technologies to better understand and develop treatments for vision loss, with the goal of regenerating cells in the retina.

• #15 Inherited retinal diseases (IRDs) | CERAInherited retinal diseases (IRDs) | CERA

  https://www.cera.org.au/conditions/inherited-retinal-diseases/

  Inherited retinal diseases (IRDs) are a broad group of genetic eye conditions that cause vision loss and sometimes, legal blindness. They can occur from birth through to late adulthood. […] IRDs are the leading cause of blindness in working age adults. Altogether, they affect around 1 in 4000 people or over 2 million people worldwide. […] CERA and the University of Melbourne are creating a national clinical database of people with IRDs. The project aims to improve understanding of IRD and find patients who are eligible for clinical trials. […] CERA is leading world-first research into gene therapies that could halt or even reverse vision loss in patients with conditions including inherited retinal diseases and glaucoma. […] Our researchers use cell reprogramming and stem cell technologies to better understand and develop treatments for vision loss, with the goal of regenerating cells in the retina.

• #16 Retinal Diseases – Optometrists.org

  https://www.optometrists.org/general-practice-optometry/guide-to-eye-conditions/guide-to-retinal-diseases/retinal-diseases/

  Retinal diseases cause damage to any part of the retina. Untreated retinal diseases can lead to severe vision loss and even blindness. With early detection, some retinal diseases can be treated, while others can be controlled or slowed down to preserve, or even restore vision. […] Retinal detachments affect 5 in 100,000 people, annually. […] Middle-aged and elderly populations are affected more frequently, with approximately 20 in 100,000, annually. […] Diabetic retinopathy affects 1 in 3 people with diabetes. […] 95% of people with diabetic retinopathy can avoid severe vision loss with early treatment. […] Research has shown that ERM affects up to 2 percent of patients over age 50 and 20 percent over age 75. […] RP affects approximately 1 in 4,000 people worldwide. […] CRVO and BRVO are the second most common retinal vascular disease. […] Branch retinal vein occlusion usually causes a sudden loss of vision. […] Retinal neovascularization is a serious complication that can occur as a result of BRVO.

• #17 Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | Scientific Reports

  https://www.nature.com/articles/s41598-022-24636-1

  The overall diagnostic success rate was 69.5%, when calculated on the number of probands/families, or 73% if based on individual cases (2036 solved out of 2790 molecularly analyzed cases). We identified 1319 distinct causative variants in 132 different genes. The ten most commonly mutated genes were ABCA4 (n=535 [26.3%]), USH2A (n=228 [11.2%]), RPGR (n=102 [5%]), CHM (n=72 [3.5%]), RHO (n=72 [3.5%]), MYO7A (n=69 [3.4%]), CRB1 (n=55 [2.7%]), RPE65 (n=40 [2%]), RP1 (n=37 [1.8%]), and GUCY2D (n=34 [1.7%]). […] The genetic analysis of our cohort revealed 353 novel disease associated variants in 96 genes. To establish whether a genotype could explain the disease, we assessed the concordance with the inheritance mode, available segregation results and, most importantly, the clinical phenotype. Overall, we identified 866 patients (42.5% of the solved cohort) with potentially actionable genotypes for therapeutic approaches that are either already available or are currently being tested in advanced clinical trials. Defining the molecular epidemiology of IRDs, besides providing insights on their molecular etiology, can advise policymakers and stakeholders on the healthcare burden of these rare diseases, and can act as a driver to guide research efforts on the development of therapeutic options for a growing number of patients.

• #18 Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan | npj Genomic Medicine

  https://www.nature.com/articles/s41525-021-00180-1

  Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). […] To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan.

• #19 Raising the retinal disease treatment bar with genetic testing

  https://www.ophthalmologytimes.com/view/raising-the-retinal-disease-treatment-bar-with-genetic-testing

  Genetic testing is not only important, but according to the American Academy of Ophthalmology, it is appropriate for most patients with presumed genetically caused retinal degeneration. […] In addition, genetic testing is important for surveillance and to rule syndromic disease in or out. […] Further, the testing is vital for identifying patients who may be candidates for clinical trials and therapies. […] When considering the genes associated with current gene-based clinical trials or therapies, she noted, this genetic testing program is making a significant impact in identifying patients who might qualify for therapies. […] The services currently available ensure that all patients can access genetic testing.

• #20 Retinal diseases – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825

  Retinal diseases vary widely, but most of them cause visual symptoms. Retinal diseases can affect any part of your retina, a thin layer of tissue on the inside back wall of the eye. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] Risk factors for retinal diseases might include: Aging. Smoking. Being obese. Having diabetes or other diseases. Eye trauma. A family history of retinal diseases.

• #21 Retinal diseases – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825

  Retinal diseases vary widely, but most of them cause visual symptoms. Retinal diseases can affect any part of your retina, a thin layer of tissue on the inside back wall of the eye. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] Risk factors for retinal diseases might include: Aging. Smoking. Being obese. Having diabetes or other diseases. Eye trauma. A family history of retinal diseases.

• #22 Prevalence, Pattern and Risk Factors of Retinal Diseases Among an Elderly Population in Nepal: The Bhaktapur Retina Study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7399464/

  Retinal diseases are an emerging cause of visual impairment in the developing world. The aim of this study was to explore the prevalence, pattern, and risk factors of retinal diseases in Nepal. […] The prevalence of any retinal disorder was 52.37% (95% confidence interval (CI): 50.0754.66%). The prevalence of retinal disorders increased with ageing: 51.26% between 60 and 69 years and 53.05% among those age 80 years and above. […] Prevalence of retinal disorder was 52.37% at age 60 years and above. AMD, hypertensive retinopathy, ERM, BRVO, and DR were the most common retinal disorders. Retinal disorders increased with ageing. Retinal disorders were found associated with hypertension and prior cataract surgery. […] In Nepal, retinal diseases were the third leading cause of blindness in a national population-based survey conducted in 1981.

• #23 Retinal Diseases | UK Healthcare

  https://ukhealthcare.uky.edu/advanced-eye-care/services/retina

  The leading causes of vision impairment and blindness in the United States are primarily age-related eye diseases. […] The number of Americans at risk for age-related eye diseases is increasing as the baby boomer generation ages. […] These conditions, including age-related macular degeneration, cataract, diabetic retinopathy and glaucoma, affect more Americans than ever before. […] Disturbingly, the number of Americans with age-related eye disease and the vision impairment that results is expected to double within the next three decades, according to PreventBlindness.org. […] Diabetic retinopathy is the leading cause of blindness in the working-age population. […] All people with diabetes need eye exams at least once a year. […] Uveitis is the inflammation of the uvea, which is the middle layer of the eye between the retina and the sclera.

• #24 Prevalence, Pattern and Risk Factors of Retinal Diseases Among an Elderly Population in Nepal: The Bhaktapur Retina Study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7399464/

  Retinal diseases are major challenges in Nepal, so timely interventions are essential to prevent blindness. […] The overall prevalence of retinal disorder was 52.37% of study subjects age 60 years and above. […] The prevalence of retinal diseases was 15.5% in the 6069 years age group, and 21% in those 70 years and above in a study conducted in neighbouring India. […] The risk of developing retinal disorders for those who had undergone prior cataract surgery was 1.7 times more than those who were phakic (OR, 1.71, p 0.001) and was 1.2 times higher in patients with hypertension (OR, 1.21, p=0.049) as compared to non-hypertensive patients.

• #25 Retinal Diseases – Optometrists.org

  https://www.optometrists.org/general-practice-optometry/guide-to-eye-conditions/guide-to-retinal-diseases/retinal-diseases/

  Retinal diseases cause damage to any part of the retina. Untreated retinal diseases can lead to severe vision loss and even blindness. With early detection, some retinal diseases can be treated, while others can be controlled or slowed down to preserve, or even restore vision. […] Retinal detachments affect 5 in 100,000 people, annually. […] Middle-aged and elderly populations are affected more frequently, with approximately 20 in 100,000, annually. […] Diabetic retinopathy affects 1 in 3 people with diabetes. […] 95% of people with diabetic retinopathy can avoid severe vision loss with early treatment. […] Research has shown that ERM affects up to 2 percent of patients over age 50 and 20 percent over age 75. […] RP affects approximately 1 in 4,000 people worldwide. […] CRVO and BRVO are the second most common retinal vascular disease. […] Branch retinal vein occlusion usually causes a sudden loss of vision. […] Retinal neovascularization is a serious complication that can occur as a result of BRVO.

• #26 Retinal diseases – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825

  Retinal diseases vary widely, but most of them cause visual symptoms. Retinal diseases can affect any part of your retina, a thin layer of tissue on the inside back wall of the eye. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] Risk factors for retinal diseases might include: Aging. Smoking. Being obese. Having diabetes or other diseases. Eye trauma. A family history of retinal diseases.

• #27 Retinal diseases – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825

  Retinal diseases vary widely, but most of them cause visual symptoms. Retinal diseases can affect any part of your retina, a thin layer of tissue on the inside back wall of the eye. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] Risk factors for retinal diseases might include: Aging. Smoking. Being obese. Having diabetes or other diseases. Eye trauma. A family history of retinal diseases.

• #28 Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | Scientific Reports

  https://www.nature.com/articles/s41598-022-24636-1

  Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n=2790) followed at a single referral center. Our analysis confirms the complex genetic etiology of IRDs and reveals the high prevalence of ABCA4 and USH2A mutations. This study also uncovers genetic associations with a spectrum of clinical subgroups and highlights a valuable number of cases potentially eligible for clinical trials and, ultimately, for molecular therapies. […] Inherited retinal diseases (IRDs) constitute a large group of rare monogenic diseases that affect primarily the retina resulting in vision impairment, and often ultimately blindness. They collectively represent the leading cause of vision loss in the working-age population with a combined incidence of 1:3000. The genetic etiology of IRDs is highly heterogeneous. The extensive phenotypic overlap of IRD subtypes hinders their accurate clinical diagnosis. Genetic testing is therefore critical because it can provide differential diagnosis and improve patient management with correct prognosis, genetic counselling, and access to gene-specific therapeutic options.

• #29 Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | Scientific Reports

  https://www.nature.com/articles/s41598-022-24636-1

  Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n=2790) followed at a single referral center. Our analysis confirms the complex genetic etiology of IRDs and reveals the high prevalence of ABCA4 and USH2A mutations. This study also uncovers genetic associations with a spectrum of clinical subgroups and highlights a valuable number of cases potentially eligible for clinical trials and, ultimately, for molecular therapies. […] Inherited retinal diseases (IRDs) constitute a large group of rare monogenic diseases that affect primarily the retina resulting in vision impairment, and often ultimately blindness. They collectively represent the leading cause of vision loss in the working-age population with a combined incidence of 1:3000. The genetic etiology of IRDs is highly heterogeneous. The extensive phenotypic overlap of IRD subtypes hinders their accurate clinical diagnosis. Genetic testing is therefore critical because it can provide differential diagnosis and improve patient management with correct prognosis, genetic counselling, and access to gene-specific therapeutic options.

• #30 Stargardt Disease/Fundus Flavimaculatus – EyeWiki

  https://eyewiki.org/Stargardt_Disease/Fundus_Flavimaculatus

  Substantial evidence supports the fact that some ABCA4 heterozygote carriers may have an increased risk of developing AMD. In fact, it was shown in a multicenter international study that heterozygotes for the G1961E ABCA4 allele had a fivefold increased risk of developing AMD, and that carriers of the D2177N variant had a threefold increased risk. However, although some ABCA4 mutations may have an influence in the development of AMD, they represent only a minor cause. […] Once thought to represent a completely distinct condition, fundus flavimaculatus shares obvious phenotypic similarities with Stargardt disease and it is now the consensus that fundus flavimaculatus and Stargardt disease are genetically linked. The former represents a subset of Stargardt manifestations, with intermediate forms between the two equally considered. It should be pointed that Stargardt and fundus flavimaculatus differ in important aspects. Patients with fundus flavimaculatus often have a later disease onset and slower visual deterioration, making fundus flavimaculatus a milder condition.

• #31 Stargardt Disease/Fundus Flavimaculatus – EyeWiki

  https://eyewiki.org/Stargardt_Disease/Fundus_Flavimaculatus

  Substantial evidence supports the fact that some ABCA4 heterozygote carriers may have an increased risk of developing AMD. In fact, it was shown in a multicenter international study that heterozygotes for the G1961E ABCA4 allele had a fivefold increased risk of developing AMD, and that carriers of the D2177N variant had a threefold increased risk. However, although some ABCA4 mutations may have an influence in the development of AMD, they represent only a minor cause. […] Once thought to represent a completely distinct condition, fundus flavimaculatus shares obvious phenotypic similarities with Stargardt disease and it is now the consensus that fundus flavimaculatus and Stargardt disease are genetically linked. The former represents a subset of Stargardt manifestations, with intermediate forms between the two equally considered. It should be pointed that Stargardt and fundus flavimaculatus differ in important aspects. Patients with fundus flavimaculatus often have a later disease onset and slower visual deterioration, making fundus flavimaculatus a milder condition.

• #32 Stargardt Disease/Fundus Flavimaculatus – EyeWiki

  https://eyewiki.org/Stargardt_Disease/Fundus_Flavimaculatus

  STGD accounts for about 7% of all retinal degenerations, grossly affecting 1 per 10.000 individuals. The disease usually manifests itself in early childhood or adolescence, but later onset has also been reported. As with all autosomal conditions, males and females are equally affected. No race predilection has been noted. The disease progression is slow, but ultimately all experience severe visual disability between the 4th and 7th decade. […] Given the significant carrier frequency for ABCA4 alleles, reaching as much as 5-10% in the general population, the association between ABCA4 variants and retinal pathology is now broader than previously thought. Indeed, different combinations of ABCA4 alleles are predicted to result in distinct phenotypes, in a continuum of retinal disease manifestations and it appears the severity of disease is deemed inversely proportional to the residual ABCA4 activity.

• #33 Prevalence, Pattern and Risk Factors of Retinal Diseases Among an Elderly Population in Nepal: The Bhaktapur Retina Study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7399464/

  Retinal diseases are major challenges in Nepal, so timely interventions are essential to prevent blindness. […] The overall prevalence of retinal disorder was 52.37% of study subjects age 60 years and above. […] The prevalence of retinal diseases was 15.5% in the 6069 years age group, and 21% in those 70 years and above in a study conducted in neighbouring India. […] The risk of developing retinal disorders for those who had undergone prior cataract surgery was 1.7 times more than those who were phakic (OR, 1.71, p 0.001) and was 1.2 times higher in patients with hypertension (OR, 1.21, p=0.049) as compared to non-hypertensive patients.

• #34 Retinal diseases – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/retinal-diseases/symptoms-causes/syc-20355825

  Retinal diseases vary widely, but most of them cause visual symptoms. Retinal diseases can affect any part of your retina, a thin layer of tissue on the inside back wall of the eye. […] Treatment is available for some retinal diseases. Depending on your condition, treatment goals may be to stop or slow the disease. This may help preserve, improve or restore your vision. Untreated, some retinal diseases can cause severe vision loss or blindness. […] Risk factors for retinal diseases might include: Aging. Smoking. Being obese. Having diabetes or other diseases. Eye trauma. A family history of retinal diseases.

• #35 Population prevalence, pattern for retinal diseases | OPTH

  https://www.dovepress.com/population-prevalence-pattern-and-associated-factors-for-retinal-disea-peer-reviewed-fulltext-article-OPTH

  Retinal diseases are common at high altitudes due to a cascade of changes caused by hypoxia. The aim of this study is to assess the population prevalence, pattern and associated factors of retinal disorders at high altitude in Nepal. […] Over half of the study participants had retinal diseases, with hypertensive retinopathy, AMD, and high-altitude retinopathy as the most common retinal problems. A significant association of retinal diseases was found with ageing, and hypertension. […] Retinal disorders are the leading cause of blindness in Nepal. A study from Nepal reported a prevalence of retinal disorders in one or both eyes among 52% of the study participants age 60 years and above, which increased with ageing. […] High-altitude retinopathy (HAR) is characterized by engorgement of retinal veins with occasional papilledema, cotton wool spots, vitreous haemorrhage, and retinal haemorrhages. The major pathogenic factor underlying HAR is thought to be hypoxia at high altitude, which leads to various changes in the retinal blood vessels.

• #36 Real-World Research on Retinal Diseases Using Health Claims Database: A Narrative Review

  https://www.mdpi.com/2075-4418/14/14/1568

  Real-world data (RWD) has emerged as a crucial component in understanding and improving patient outcomes across various medical conditions, including retinal diseases. Health claims databases, generated from healthcare reimbursement claims, offer a comprehensive source of RWD, providing insights into patient outcomes, healthcare utilization, and treatment effectiveness. […] The review examines the applications of health claims databases in retinal disease research, including epidemiological studies, comparative effectiveness and safety analyses, economic burden assessments, and evaluations of patient outcomes and quality of care. Previous findings demonstrate the value of these databases in generating prevalence and incidence estimates, identifying risk factors and predictors, evaluating treatment effectiveness and safety, and understanding healthcare utilization patterns and costs associated with retinal diseases.

• #37 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  Recent advancements in teleophthalmology have transformed retinal disease management, benefiting healthcare providers and patients. […] Several key factors drive the rapid growth of teleophthalmology in retinal diseases. Firstly, there’s a significant increase in the worldwide incidence of conditions like age-related macular degeneration (AMD) and diabetic retinopathy (DR), with estimates suggesting AMD could impact nearly 300 million people by 2040. […] The diagnosis and monitoring of retinal disorders heavily depend on imaging technologies. Fundus photography and optical coherence tomography (OCT) now enable capturing high-quality retinal images. […] Teleophthalmology is the backbone of multiple nationally and regionally implemented retinal screening initiatives, such as screening for DR in the United Kingdom (UK), Singapore, and India.

• #38 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The patient uptake of the DR screening programme is slowly increasing, with 78.3% national uptake in 2021/22. […] Telescreening for DR in the remote setting allows for retinal image grading, treatment decisions, and surveillance, with or without the assistance of AI, overcoming limitations associated with the availability of retinal graders on a global scale. […] Teleophthalmology in ROP has demonstrated long-term time and cost-effectiveness. […] Integrating teleophthalmology into the management of choroidal naevi presents a promising advancement in patient care. […] The COVID-19 pandemic significantly increased the usage of teleophthalmology due to heightened demand. […] The diagnostic hub has scheduled appointments for over 20,000 patients within the medical retina service. […] Telemedicine has proven effective in breaking down geographical barriers and reducing travel inconvenience for patients, leading to higher satisfaction levels.

• #39 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The patient uptake of the DR screening programme is slowly increasing, with 78.3% national uptake in 2021/22. […] Telescreening for DR in the remote setting allows for retinal image grading, treatment decisions, and surveillance, with or without the assistance of AI, overcoming limitations associated with the availability of retinal graders on a global scale. […] Teleophthalmology in ROP has demonstrated long-term time and cost-effectiveness. […] Integrating teleophthalmology into the management of choroidal naevi presents a promising advancement in patient care. […] The COVID-19 pandemic significantly increased the usage of teleophthalmology due to heightened demand. […] The diagnostic hub has scheduled appointments for over 20,000 patients within the medical retina service. […] Telemedicine has proven effective in breaking down geographical barriers and reducing travel inconvenience for patients, leading to higher satisfaction levels.

• #40 Retinal Diseases | UK Healthcare

  https://ukhealthcare.uky.edu/advanced-eye-care/services/retina

  The leading causes of vision impairment and blindness in the United States are primarily age-related eye diseases. […] The number of Americans at risk for age-related eye diseases is increasing as the baby boomer generation ages. […] These conditions, including age-related macular degeneration, cataract, diabetic retinopathy and glaucoma, affect more Americans than ever before. […] Disturbingly, the number of Americans with age-related eye disease and the vision impairment that results is expected to double within the next three decades, according to PreventBlindness.org. […] Diabetic retinopathy is the leading cause of blindness in the working-age population. […] All people with diabetes need eye exams at least once a year. […] Uveitis is the inflammation of the uvea, which is the middle layer of the eye between the retina and the sclera.

• #41 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  Recent advancements in teleophthalmology have transformed retinal disease management, benefiting healthcare providers and patients. […] Several key factors drive the rapid growth of teleophthalmology in retinal diseases. Firstly, there’s a significant increase in the worldwide incidence of conditions like age-related macular degeneration (AMD) and diabetic retinopathy (DR), with estimates suggesting AMD could impact nearly 300 million people by 2040. […] The diagnosis and monitoring of retinal disorders heavily depend on imaging technologies. Fundus photography and optical coherence tomography (OCT) now enable capturing high-quality retinal images. […] Teleophthalmology is the backbone of multiple nationally and regionally implemented retinal screening initiatives, such as screening for DR in the United Kingdom (UK), Singapore, and India.

• #42

  https://link.springer.com/article/10.1007/s10792-024-02975-4

  Diabetic retinopathy (DR) is the leading global cause of vision loss, accounting for 4.8% of global blindness cases as estimated by the World Health Organization (WHO). […] Fundus photography is crucial in ophthalmology as a diagnostic tool for capturing retinal images. […] Despite their potential, there is a lack of comprehensive review studies examining the clinical utilities of these handheld and smartphone-based fundus cameras. […] This review study aims to evaluate the feasibility and practicality of these available handheld and smartphone-based cameras in medical settings, emphasizing their advantages over traditional tabletop fundus cameras. […] By highlighting various clinical settings and use scenarios, this review aims to fill this gap by evaluating the efficiency, feasibility, cost-effectiveness, and remote capabilities of handheld and smartphone fundus cameras, ultimately enhancing the accessibility of ophthalmic services.

• #43 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  Recent advancements in teleophthalmology have transformed retinal disease management, benefiting healthcare providers and patients. […] Several key factors drive the rapid growth of teleophthalmology in retinal diseases. Firstly, there’s a significant increase in the worldwide incidence of conditions like age-related macular degeneration (AMD) and diabetic retinopathy (DR), with estimates suggesting AMD could impact nearly 300 million people by 2040. […] The diagnosis and monitoring of retinal disorders heavily depend on imaging technologies. Fundus photography and optical coherence tomography (OCT) now enable capturing high-quality retinal images. […] Teleophthalmology is the backbone of multiple nationally and regionally implemented retinal screening initiatives, such as screening for DR in the United Kingdom (UK), Singapore, and India.

• #44

  https://link.springer.com/article/10.1007/s10792-024-02975-4

  Diabetic retinopathy (DR) is the leading global cause of vision loss, accounting for 4.8% of global blindness cases as estimated by the World Health Organization (WHO). […] Fundus photography is crucial in ophthalmology as a diagnostic tool for capturing retinal images. […] Despite their potential, there is a lack of comprehensive review studies examining the clinical utilities of these handheld and smartphone-based fundus cameras. […] This review study aims to evaluate the feasibility and practicality of these available handheld and smartphone-based cameras in medical settings, emphasizing their advantages over traditional tabletop fundus cameras. […] By highlighting various clinical settings and use scenarios, this review aims to fill this gap by evaluating the efficiency, feasibility, cost-effectiveness, and remote capabilities of handheld and smartphone fundus cameras, ultimately enhancing the accessibility of ophthalmic services.

• #45 Evaluation of a self-imaging OCT for remote diagnosis and monitoring of retinal diseases | British Journal of Ophthalmology

  https://bjo.bmj.com/content/108/8/1154

  Objectives To evaluate the feasibility and accuracy of a portable, self-imaging optical coherence tomography (OCT) for measuring central subfield thickness (CST) and achieving diagnostic concordance for retinal lesions compared with clinic-based spectral-domain OCT (SD-OCT). […] This study demonstrates that our self-imaging OCT and clinical-used SD-OCT are highly consistent not only in measuring the CST but also in identifying most retinal lesions.

• #46 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  Recent advancements in teleophthalmology have transformed retinal disease management, benefiting healthcare providers and patients. […] Several key factors drive the rapid growth of teleophthalmology in retinal diseases. Firstly, there’s a significant increase in the worldwide incidence of conditions like age-related macular degeneration (AMD) and diabetic retinopathy (DR), with estimates suggesting AMD could impact nearly 300 million people by 2040. […] The diagnosis and monitoring of retinal disorders heavily depend on imaging technologies. Fundus photography and optical coherence tomography (OCT) now enable capturing high-quality retinal images. […] Teleophthalmology is the backbone of multiple nationally and regionally implemented retinal screening initiatives, such as screening for DR in the United Kingdom (UK), Singapore, and India.

• #47 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The patient uptake of the DR screening programme is slowly increasing, with 78.3% national uptake in 2021/22. […] Telescreening for DR in the remote setting allows for retinal image grading, treatment decisions, and surveillance, with or without the assistance of AI, overcoming limitations associated with the availability of retinal graders on a global scale. […] Teleophthalmology in ROP has demonstrated long-term time and cost-effectiveness. […] Integrating teleophthalmology into the management of choroidal naevi presents a promising advancement in patient care. […] The COVID-19 pandemic significantly increased the usage of teleophthalmology due to heightened demand. […] The diagnostic hub has scheduled appointments for over 20,000 patients within the medical retina service. […] Telemedicine has proven effective in breaking down geographical barriers and reducing travel inconvenience for patients, leading to higher satisfaction levels.

• #48 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The patient uptake of the DR screening programme is slowly increasing, with 78.3% national uptake in 2021/22. […] Telescreening for DR in the remote setting allows for retinal image grading, treatment decisions, and surveillance, with or without the assistance of AI, overcoming limitations associated with the availability of retinal graders on a global scale. […] Teleophthalmology in ROP has demonstrated long-term time and cost-effectiveness. […] Integrating teleophthalmology into the management of choroidal naevi presents a promising advancement in patient care. […] The COVID-19 pandemic significantly increased the usage of teleophthalmology due to heightened demand. […] The diagnostic hub has scheduled appointments for over 20,000 patients within the medical retina service. […] Telemedicine has proven effective in breaking down geographical barriers and reducing travel inconvenience for patients, leading to higher satisfaction levels.

• #49 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The patient uptake of the DR screening programme is slowly increasing, with 78.3% national uptake in 2021/22. […] Telescreening for DR in the remote setting allows for retinal image grading, treatment decisions, and surveillance, with or without the assistance of AI, overcoming limitations associated with the availability of retinal graders on a global scale. […] Teleophthalmology in ROP has demonstrated long-term time and cost-effectiveness. […] Integrating teleophthalmology into the management of choroidal naevi presents a promising advancement in patient care. […] The COVID-19 pandemic significantly increased the usage of teleophthalmology due to heightened demand. […] The diagnostic hub has scheduled appointments for over 20,000 patients within the medical retina service. […] Telemedicine has proven effective in breaking down geographical barriers and reducing travel inconvenience for patients, leading to higher satisfaction levels.

• #50 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The optimisation of cost-effectiveness and resource utilisation in teleophthalmology has become a focal point in healthcare systems striving to deliver efficient and high-quality care. […] Telemedicine is pivotal in facilitating early detection and timely intervention, ultimately preventing complications and reducing the overall economic burden associated with advanced sight-threatening eye disease and sight loss.

• #51 Real-World Research on Retinal Diseases Using Health Claims Database: A Narrative Review

  https://www.mdpi.com/2075-4418/14/14/1568

  Real-world data (RWD) has emerged as a crucial component in understanding and improving patient outcomes across various medical conditions, including retinal diseases. Health claims databases, generated from healthcare reimbursement claims, offer a comprehensive source of RWD, providing insights into patient outcomes, healthcare utilization, and treatment effectiveness. […] The review examines the applications of health claims databases in retinal disease research, including epidemiological studies, comparative effectiveness and safety analyses, economic burden assessments, and evaluations of patient outcomes and quality of care. Previous findings demonstrate the value of these databases in generating prevalence and incidence estimates, identifying risk factors and predictors, evaluating treatment effectiveness and safety, and understanding healthcare utilization patterns and costs associated with retinal diseases.

• #52 Real-World Research on Retinal Diseases Using Health Claims Database: A Narrative Review

  https://www.mdpi.com/2075-4418/14/14/1568

  Real-world data (RWD) has emerged as a crucial component in understanding and improving patient outcomes across various medical conditions, including retinal diseases. Health claims databases, generated from healthcare reimbursement claims, offer a comprehensive source of RWD, providing insights into patient outcomes, healthcare utilization, and treatment effectiveness. […] The review examines the applications of health claims databases in retinal disease research, including epidemiological studies, comparative effectiveness and safety analyses, economic burden assessments, and evaluations of patient outcomes and quality of care. Previous findings demonstrate the value of these databases in generating prevalence and incidence estimates, identifying risk factors and predictors, evaluating treatment effectiveness and safety, and understanding healthcare utilization patterns and costs associated with retinal diseases.

• #53 Real-World Research on Retinal Diseases Using Health Claims Database: A Narrative Review

  https://www.mdpi.com/2075-4418/14/14/1568

  Retinal diseases exemplify conditions where RWD and health claims databases can significantly contribute to our understanding and management strategies. Retinal diseases encompass a wide range of disorders, including diabetic retinopathy (DR), retinopathy of prematurity, and age-related macular degeneration, each with distinct etiologies, pathophysiologies, and treatment approaches. The global burden of retinal diseases, particularly DR, underscores the importance of population-based research in identifying trends, evaluating treatment outcomes, and understanding disease progression on a large scale. […] Real-world research using health claims databases provides critical insights into the epidemiology, effectiveness, and safety of treatments for diverse retinal diseases. These studies were applied for epidemiologic studies or effectiveness/safety research, in order to inform clinical practice, guide public health or treatment strategies, and ultimately improve patient outcomes for those with retinal diseases.

• #54 VEHSS Modeled Estimates: Prevalence of Diabetic Retinopathy (DR) | Vision and Eye Health Surveillance System | CDC

  https://www.cdc.gov/vision-health-data/prevalence-estimates/dr-prevalence.html

  The Vision and Eye Health Surveillance System (VEHSS) modeled estimate of DR is CDCs primary estimate of the prevalence of DR in the United States. […] VEHSS researchers used a statistical method called Bayesian meta-regression to combine information from multiple data sources to produce DR prevalence estimates among the entire US population in 2021. […] The VEHSS modeled estimates of DR are CDCs estimate of the percentage of US residents who have DR, where they live, and who they are. […] CDC uses the VEHSS modeled estimate as the primary estimate to assess the percentage of people with DR in the United States by state, county, and across different age groups, racial and ethnic group, sex and by diabetes status. […] The population with diabetes was based on 2017-2020 NHANES data, including self-reported diabetes, self-reported use of insulin, or elevated blood hemoglobin A1C levels. […] The VEHSS estimates use measured DR based on retinal imaging from the 2005-2008 National Health and Nutrition Examination Survey (NHANES) as the reference point dataset to create output based on the characteristics and performance of the NHANES retinal imaging exam.

• #55 Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan | npj Genomic Medicine

  https://www.nature.com/articles/s41525-021-00180-1

  Taiwan is geographically isolated, and is relatively homogenous genetically. To explore the nationwide epidemiology and genetic aspects of IRDs in Taiwan, our team, granted by National Taiwan University Hospital, started performing genomic surveillance for IRD patients using a capture-based NGS platform in 2015. […] In this report of the TIP, we aimed to standardize the data-analysis pipeline and to characterize the diversity of mutations in patients with IRD in our cohort. […] To confirm the cohorts representativeness of IRD in Taiwans population as a whole, we also referred to the population statistics from Taiwans National Health Insurance Research Database (NHIRD), which has records of medical visits and ICD codes for every resident in Taiwan. The statistical results showed that the patients included in our current cohort account for 8.8% of currently diagnosed IRD patients in Taiwan.

• #56 Inherited retinal diseases (IRDs) | CERAInherited retinal diseases (IRDs) | CERA

  https://www.cera.org.au/conditions/inherited-retinal-diseases/

  Inherited retinal diseases (IRDs) are a broad group of genetic eye conditions that cause vision loss and sometimes, legal blindness. They can occur from birth through to late adulthood. […] IRDs are the leading cause of blindness in working age adults. Altogether, they affect around 1 in 4000 people or over 2 million people worldwide. […] CERA and the University of Melbourne are creating a national clinical database of people with IRDs. The project aims to improve understanding of IRD and find patients who are eligible for clinical trials. […] CERA is leading world-first research into gene therapies that could halt or even reverse vision loss in patients with conditions including inherited retinal diseases and glaucoma. […] Our researchers use cell reprogramming and stem cell technologies to better understand and develop treatments for vision loss, with the goal of regenerating cells in the retina.

• #57

  https://link.springer.com/article/10.1007/s00417-024-06634-3

  Digital health is wielding a growing influence across all areas of healthcare, with an ever-expanding role in improving the accessibility and demographics of healthcare systems. […] In Ophthalmology, digital health innovations can be broadly divided into four categories: (i) self-monitoring home devices and apps, (ii) VR and AR visual aids, (iii) standalone AI software, and (iv) wearables. […] Focusing on retinal diseases, a key challenge in the development of novel therapeutics for rare diseases (such as inherited retinal dystrophies -IRD-) has been to prove a meaningful benefit in patients lives and the creation of objective patient-centred endpoints in clinical trials. […] Wearable devices are able to acquire large amounts of objective data which may be more ecologically valid and meaningful to patients than that acquired in traditional hospital settings; at a minimum, complementing one another.

• #58

  https://link.springer.com/article/10.1007/s00417-024-06634-3

  Digital health is wielding a growing influence across all areas of healthcare, with an ever-expanding role in improving the accessibility and demographics of healthcare systems. […] In Ophthalmology, digital health innovations can be broadly divided into four categories: (i) self-monitoring home devices and apps, (ii) VR and AR visual aids, (iii) standalone AI software, and (iv) wearables. […] Focusing on retinal diseases, a key challenge in the development of novel therapeutics for rare diseases (such as inherited retinal dystrophies -IRD-) has been to prove a meaningful benefit in patients lives and the creation of objective patient-centred endpoints in clinical trials. […] Wearable devices are able to acquire large amounts of objective data which may be more ecologically valid and meaningful to patients than that acquired in traditional hospital settings; at a minimum, complementing one another.

• #59

  https://link.springer.com/article/10.1007/s00417-024-06634-3

  Digital health is wielding a growing influence across all areas of healthcare, with an ever-expanding role in improving the accessibility and demographics of healthcare systems. […] In Ophthalmology, digital health innovations can be broadly divided into four categories: (i) self-monitoring home devices and apps, (ii) VR and AR visual aids, (iii) standalone AI software, and (iv) wearables. […] Focusing on retinal diseases, a key challenge in the development of novel therapeutics for rare diseases (such as inherited retinal dystrophies -IRD-) has been to prove a meaningful benefit in patients lives and the creation of objective patient-centred endpoints in clinical trials. […] Wearable devices are able to acquire large amounts of objective data which may be more ecologically valid and meaningful to patients than that acquired in traditional hospital settings; at a minimum, complementing one another.

• #60

  https://link.springer.com/article/10.1007/s00417-024-06634-3

  In this review, different wearable devices relevant for retinal disease monitoring will be discussed, as well as their potential implementation as outcome measures in research/clinical trial settings. […] The digital health revolution prompts us all to engage with this change in paradigm and get acquainted with related technologies such as AI, AR and IoT. Wearable devices in Ophthalmology and in particular for retinal conditions have wide opportunities to detect risk factors (e.g., myopia), diagnose and monitor diseases (e.g., ARMD, RP), work as visual aids, and treat conditions (e.g., amblyopia). […] Many of the devices above show promise in generating relevant objective data.

• #61 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The patient uptake of the DR screening programme is slowly increasing, with 78.3% national uptake in 2021/22. […] Telescreening for DR in the remote setting allows for retinal image grading, treatment decisions, and surveillance, with or without the assistance of AI, overcoming limitations associated with the availability of retinal graders on a global scale. […] Teleophthalmology in ROP has demonstrated long-term time and cost-effectiveness. […] Integrating teleophthalmology into the management of choroidal naevi presents a promising advancement in patient care. […] The COVID-19 pandemic significantly increased the usage of teleophthalmology due to heightened demand. […] The diagnostic hub has scheduled appointments for over 20,000 patients within the medical retina service. […] Telemedicine has proven effective in breaking down geographical barriers and reducing travel inconvenience for patients, leading to higher satisfaction levels.

• #62 Teleophthalmology in Retinal Diseases | IntechOpen

  https://www.intechopen.com/chapters/1182692

  The patient uptake of the DR screening programme is slowly increasing, with 78.3% national uptake in 2021/22. […] Telescreening for DR in the remote setting allows for retinal image grading, treatment decisions, and surveillance, with or without the assistance of AI, overcoming limitations associated with the availability of retinal graders on a global scale. […] Teleophthalmology in ROP has demonstrated long-term time and cost-effectiveness. […] Integrating teleophthalmology into the management of choroidal naevi presents a promising advancement in patient care. […] The COVID-19 pandemic significantly increased the usage of teleophthalmology due to heightened demand. […] The diagnostic hub has scheduled appointments for over 20,000 patients within the medical retina service. […] Telemedicine has proven effective in breaking down geographical barriers and reducing travel inconvenience for patients, leading to higher satisfaction levels.

• #63 Industry-Leading Retina Disease Prevalence by Country | Market Scope

  https://www.market-scope.com/pages/reports/479/2024-retinal-disease-model-november-2024

  Market Scopes „2024 Retinal Disease Model” offers extensive country-level prevalence data and five-year forecasts for retinal diseases and conditions by age group for all countries with a population over a million. […] The „2024 Retinal Disease Model” provides country-level prevalence data by age group for the 228 countries with a population over a million for the following conditions: […] Market Scope utilizes proprietary demographics models and the latest clinical research to arrive at the diseased populations by country. The retinal disease model considers over 130 clinical studies and carefully evaluates each study input based on the age, sample size, and scope of the study.

• #64 Industry-Leading Retina Disease Prevalence by Country | Market Scope

  https://www.market-scope.com/pages/reports/479/2024-retinal-disease-model-november-2024

  Market Scopes „2024 Retinal Disease Model” offers extensive country-level prevalence data and five-year forecasts for retinal diseases and conditions by age group for all countries with a population over a million. […] The „2024 Retinal Disease Model” provides country-level prevalence data by age group for the 228 countries with a population over a million for the following conditions: […] Market Scope utilizes proprietary demographics models and the latest clinical research to arrive at the diseased populations by country. The retinal disease model considers over 130 clinical studies and carefully evaluates each study input based on the age, sample size, and scope of the study.

• #65 VEHSS Modeled Estimates: Prevalence of Diabetic Retinopathy (DR) | Vision and Eye Health Surveillance System | CDC

  https://www.cdc.gov/vision-health-data/prevalence-estimates/dr-prevalence.html

  The Vision and Eye Health Surveillance System (VEHSS) modeled estimate of DR is CDCs primary estimate of the prevalence of DR in the United States. […] VEHSS researchers used a statistical method called Bayesian meta-regression to combine information from multiple data sources to produce DR prevalence estimates among the entire US population in 2021. […] The VEHSS modeled estimates of DR are CDCs estimate of the percentage of US residents who have DR, where they live, and who they are. […] CDC uses the VEHSS modeled estimate as the primary estimate to assess the percentage of people with DR in the United States by state, county, and across different age groups, racial and ethnic group, sex and by diabetes status. […] The population with diabetes was based on 2017-2020 NHANES data, including self-reported diabetes, self-reported use of insulin, or elevated blood hemoglobin A1C levels. […] The VEHSS estimates use measured DR based on retinal imaging from the 2005-2008 National Health and Nutrition Examination Survey (NHANES) as the reference point dataset to create output based on the characteristics and performance of the NHANES retinal imaging exam.

• #66 Industry-Leading Retina Disease Prevalence by Country | Market Scope

  https://www.market-scope.com/pages/reports/479/2024-retinal-disease-model-november-2024

  Market Scopes „2024 Retinal Disease Model” offers extensive country-level prevalence data and five-year forecasts for retinal diseases and conditions by age group for all countries with a population over a million. […] The „2024 Retinal Disease Model” provides country-level prevalence data by age group for the 228 countries with a population over a million for the following conditions: […] Market Scope utilizes proprietary demographics models and the latest clinical research to arrive at the diseased populations by country. The retinal disease model considers over 130 clinical studies and carefully evaluates each study input based on the age, sample size, and scope of the study.

• #67 Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | Scientific Reports

  https://www.nature.com/articles/s41598-022-24636-1

  The overall diagnostic success rate was 69.5%, when calculated on the number of probands/families, or 73% if based on individual cases (2036 solved out of 2790 molecularly analyzed cases). We identified 1319 distinct causative variants in 132 different genes. The ten most commonly mutated genes were ABCA4 (n=535 [26.3%]), USH2A (n=228 [11.2%]), RPGR (n=102 [5%]), CHM (n=72 [3.5%]), RHO (n=72 [3.5%]), MYO7A (n=69 [3.4%]), CRB1 (n=55 [2.7%]), RPE65 (n=40 [2%]), RP1 (n=37 [1.8%]), and GUCY2D (n=34 [1.7%]). […] The genetic analysis of our cohort revealed 353 novel disease associated variants in 96 genes. To establish whether a genotype could explain the disease, we assessed the concordance with the inheritance mode, available segregation results and, most importantly, the clinical phenotype. Overall, we identified 866 patients (42.5% of the solved cohort) with potentially actionable genotypes for therapeutic approaches that are either already available or are currently being tested in advanced clinical trials. Defining the molecular epidemiology of IRDs, besides providing insights on their molecular etiology, can advise policymakers and stakeholders on the healthcare burden of these rare diseases, and can act as a driver to guide research efforts on the development of therapeutic options for a growing number of patients.

• #68 Retinal Disease Hub. Macular Degeneration | Medically Roche

  https://medically.roche.com/global/en/microsites/retinal-disease.html

  Retinal diseases remain a leading cause of vision loss with increasing global prevalence. […] Retinal disease is a significant public health issue that is now affecting more of us than ever before. The number of people living with two of the leading causes of vision loss – Neovascular Age-related Macular Degeneration (nAMD) and Diabetic Macular Edema (DME) – worldwide is set to grow, further increasing the pressure on health system capacity. […] Although anti-VEGF therapies have redefined the care of patients with retinal diseases, new treatments are still required to reduce treatment burden.

• #69 Retinal Diseases: Overview and Types

  https://my.clevelandclinic.org/health/diseases/24853-retinal-diseases

  How common are retinal diseases? […] There are about 11.8 million people in the U.S. with eye diseases, including glaucoma, diabetes-related retinopathy and photoreceptor degeneration, which refers to a loss of rods and cones. […] Retinal diseases may result in vision loss or blindness if they arent treated. Ophthalmologists are the eye care providers who treat retinal conditions. However, providers cant treat every form of retinal disease. […] You cant prevent some retinal diseases, like those that you inherit. […] The outlook for retinal diseases depends on the type of disease you have. Discuss your situation with your provider. Theyll be able to explain your condition and work with you to find the best treatment. From there, youll know what to expect in terms of your vision and overall recovery.

• #70 What Causes Retinal Diseases? | Ocular TherapeutixAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.ocutx.com/retina-focus/what-causes-retinal-diseases/

  Retinal diseases constitute a group of conditions that affect the retina – a thin layer of tissue that lines the back of the eye. An estimated 401.6 million people around the world suffer from some form of retinal disease. Age-related macular degeneration and diabetic eye diseases are the most common diseases of the retina accounting for 42.4% of all cases of retinal disease in the US. They are the leading causes of vision loss or blindness and are becoming more important because of aging populations and the increasing incidence of diabetes. […] DR is a leading cause of visual loss in the working-age population. Globally, the number of people living with DR in 2010 was estimated to be 126.6 million and is expected to increase to 191 million by 2030. Because DR affects approximately 35% to 49% of diabetes patients, this increasing trend is likely driven by the expanding diabetes epidemic worldwide. In the United States, DR affected nearly 8 million people in 2020 and the number is expected to double by 2050.

• #71 What Causes Retinal Diseases? | Ocular TherapeutixAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.ocutx.com/retina-focus/what-causes-retinal-diseases/

  Retinal diseases constitute a group of conditions that affect the retina – a thin layer of tissue that lines the back of the eye. An estimated 401.6 million people around the world suffer from some form of retinal disease. Age-related macular degeneration and diabetic eye diseases are the most common diseases of the retina accounting for 42.4% of all cases of retinal disease in the US. They are the leading causes of vision loss or blindness and are becoming more important because of aging populations and the increasing incidence of diabetes. […] DR is a leading cause of visual loss in the working-age population. Globally, the number of people living with DR in 2010 was estimated to be 126.6 million and is expected to increase to 191 million by 2030. Because DR affects approximately 35% to 49% of diabetes patients, this increasing trend is likely driven by the expanding diabetes epidemic worldwide. In the United States, DR affected nearly 8 million people in 2020 and the number is expected to double by 2050.

• #72 Retinal Diseases | UK Healthcare

  https://ukhealthcare.uky.edu/advanced-eye-care/services/retina

  The leading causes of vision impairment and blindness in the United States are primarily age-related eye diseases. […] The number of Americans at risk for age-related eye diseases is increasing as the baby boomer generation ages. […] These conditions, including age-related macular degeneration, cataract, diabetic retinopathy and glaucoma, affect more Americans than ever before. […] Disturbingly, the number of Americans with age-related eye disease and the vision impairment that results is expected to double within the next three decades, according to PreventBlindness.org. […] Diabetic retinopathy is the leading cause of blindness in the working-age population. […] All people with diabetes need eye exams at least once a year. […] Uveitis is the inflammation of the uvea, which is the middle layer of the eye between the retina and the sclera.

• #73 Retinal Disease Hub. Macular Degeneration | Medically Roche

  https://medically.roche.com/global/en/microsites/retinal-disease.html

  Retinal diseases remain a leading cause of vision loss with increasing global prevalence. […] Retinal disease is a significant public health issue that is now affecting more of us than ever before. The number of people living with two of the leading causes of vision loss – Neovascular Age-related Macular Degeneration (nAMD) and Diabetic Macular Edema (DME) – worldwide is set to grow, further increasing the pressure on health system capacity. […] Although anti-VEGF therapies have redefined the care of patients with retinal diseases, new treatments are still required to reduce treatment burden.

• #74 Retinal Diseases | UK Healthcare

  https://ukhealthcare.uky.edu/advanced-eye-care/services/retina

  The leading causes of vision impairment and blindness in the United States are primarily age-related eye diseases. […] The number of Americans at risk for age-related eye diseases is increasing as the baby boomer generation ages. […] These conditions, including age-related macular degeneration, cataract, diabetic retinopathy and glaucoma, affect more Americans than ever before. […] Disturbingly, the number of Americans with age-related eye disease and the vision impairment that results is expected to double within the next three decades, according to PreventBlindness.org. […] Diabetic retinopathy is the leading cause of blindness in the working-age population. […] All people with diabetes need eye exams at least once a year. […] Uveitis is the inflammation of the uvea, which is the middle layer of the eye between the retina and the sclera.

• #75 Retinal Diseases | UK Healthcare

  https://ukhealthcare.uky.edu/advanced-eye-care/services/retina

  The leading causes of vision impairment and blindness in the United States are primarily age-related eye diseases. […] The number of Americans at risk for age-related eye diseases is increasing as the baby boomer generation ages. […] These conditions, including age-related macular degeneration, cataract, diabetic retinopathy and glaucoma, affect more Americans than ever before. […] Disturbingly, the number of Americans with age-related eye disease and the vision impairment that results is expected to double within the next three decades, according to PreventBlindness.org. […] Diabetic retinopathy is the leading cause of blindness in the working-age population. […] All people with diabetes need eye exams at least once a year. […] Uveitis is the inflammation of the uvea, which is the middle layer of the eye between the retina and the sclera.

• #76 Retinal Diseases — EyeCare 20/20

  https://eyecare2020.org/retinal-diseases/

  If you have diabetes, you are at a higher risk for serious eye conditions, like diabetic retinopathy. […] Hypertensive retinopathy, the most common related ocular condition, can lead to vision loss. […] A family history of certain conditions is typically considered to be the most significant indicator of risk for retinal diseases. […] With conditions such as diabetic retinopathy or wet AMD, fluid may leak from the blood vessels in the eye. […] If you have macular degeneration or retinitis pigmentosa, your vision impairment may be caused by deterioration of the photoreceptors, the cells within the retina that interpret light. […] Many retina problems, if detected early, can be reversed. […] During eye exams, your doctor is able to evaluate the health of your eye and identify if there are any signs of retinal disease. […] Diagnosing your condition is the first step to a better quality of life.

• #77 SciELO Brazil – Retinal diseases in a reference center from a Western Amazon capital city Retinal diseases in a reference center from a Western Amazon capital city

  https://www.scielo.br/j/eins/a/kYKLGWbhLpxS6kttKcnzJvG/?lang=en

  Diabetic retinopathy was the main retinal disease in this population. It is an avoidable cause of blindness and can be remotely evaluated, in its initial stages, by telemedicine strategies. In remote Brazilian areas, telemedicine may be an important tool for retinal diseases diagnosis and follow-up. […] Retinal diseases are the most common cause of blindness in adults in Brazil urban populations. […] The main retinal diseases include diabetic retinopathy (DR), which has been associated with low vision or blindness in 38.7% of affected individuals, in a national study. […] DR, although preventable, is the leading cause of blindness in the working population, and its prevalence in Brazil was estimated at 7.6 to 39% of individuals with diabetes. […] Among the retinal diseases, the two leading causes of retinal changes were rhegmatogenous retinal detachment and DR.

• #78 Retinal Diseases – Optometrists.org

  https://www.optometrists.org/general-practice-optometry/guide-to-eye-conditions/guide-to-retinal-diseases/retinal-diseases/

  Retinal diseases cause damage to any part of the retina. Untreated retinal diseases can lead to severe vision loss and even blindness. With early detection, some retinal diseases can be treated, while others can be controlled or slowed down to preserve, or even restore vision. […] Retinal detachments affect 5 in 100,000 people, annually. […] Middle-aged and elderly populations are affected more frequently, with approximately 20 in 100,000, annually. […] Diabetic retinopathy affects 1 in 3 people with diabetes. […] 95% of people with diabetic retinopathy can avoid severe vision loss with early treatment. […] Research has shown that ERM affects up to 2 percent of patients over age 50 and 20 percent over age 75. […] RP affects approximately 1 in 4,000 people worldwide. […] CRVO and BRVO are the second most common retinal vascular disease. […] Branch retinal vein occlusion usually causes a sudden loss of vision. […] Retinal neovascularization is a serious complication that can occur as a result of BRVO.

• #79 Retinal Diseases — EyeCare 20/20

  https://eyecare2020.org/retinal-diseases/

  If you have diabetes, you are at a higher risk for serious eye conditions, like diabetic retinopathy. […] Hypertensive retinopathy, the most common related ocular condition, can lead to vision loss. […] A family history of certain conditions is typically considered to be the most significant indicator of risk for retinal diseases. […] With conditions such as diabetic retinopathy or wet AMD, fluid may leak from the blood vessels in the eye. […] If you have macular degeneration or retinitis pigmentosa, your vision impairment may be caused by deterioration of the photoreceptors, the cells within the retina that interpret light. […] Many retina problems, if detected early, can be reversed. […] During eye exams, your doctor is able to evaluate the health of your eye and identify if there are any signs of retinal disease. […] Diagnosing your condition is the first step to a better quality of life.

• #80 Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | Scientific Reports

  https://www.nature.com/articles/s41598-022-24636-1

  The overall diagnostic success rate was 69.5%, when calculated on the number of probands/families, or 73% if based on individual cases (2036 solved out of 2790 molecularly analyzed cases). We identified 1319 distinct causative variants in 132 different genes. The ten most commonly mutated genes were ABCA4 (n=535 [26.3%]), USH2A (n=228 [11.2%]), RPGR (n=102 [5%]), CHM (n=72 [3.5%]), RHO (n=72 [3.5%]), MYO7A (n=69 [3.4%]), CRB1 (n=55 [2.7%]), RPE65 (n=40 [2%]), RP1 (n=37 [1.8%]), and GUCY2D (n=34 [1.7%]). […] The genetic analysis of our cohort revealed 353 novel disease associated variants in 96 genes. To establish whether a genotype could explain the disease, we assessed the concordance with the inheritance mode, available segregation results and, most importantly, the clinical phenotype. Overall, we identified 866 patients (42.5% of the solved cohort) with potentially actionable genotypes for therapeutic approaches that are either already available or are currently being tested in advanced clinical trials. Defining the molecular epidemiology of IRDs, besides providing insights on their molecular etiology, can advise policymakers and stakeholders on the healthcare burden of these rare diseases, and can act as a driver to guide research efforts on the development of therapeutic options for a growing number of patients.

• #81 The socioeconomic epidemiology of inherited retinal diseases in Portugal | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03161-6

  Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. […] According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. […] The epidemiologic landscape of IRDs is critical as they vary considerably between regions and ethnic groups. […] Epidemiological studies of IRD in Portugal are scarce. […] A recent study based on the first nationwide survey in Portugal, yet unpublished, estimated the IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals. […] The number of identified patients with IRD varied between regions. […] This study found that IRD patients live in municipalities with aged populations, which may lead to less investment or support. […] The estimated IRD prevalence varied according to the region. […] Multiple targeted vision aid and rehabilitation strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

• #82 The socioeconomic epidemiology of inherited retinal diseases in Portugal | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03161-6

  Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. […] According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. […] The epidemiologic landscape of IRDs is critical as they vary considerably between regions and ethnic groups. […] Epidemiological studies of IRD in Portugal are scarce. […] A recent study based on the first nationwide survey in Portugal, yet unpublished, estimated the IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals. […] The number of identified patients with IRD varied between regions. […] This study found that IRD patients live in municipalities with aged populations, which may lead to less investment or support. […] The estimated IRD prevalence varied according to the region. […] Multiple targeted vision aid and rehabilitation strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

• #83 The socioeconomic epidemiology of inherited retinal diseases in Portugal | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03161-6

  Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. […] According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. […] The epidemiologic landscape of IRDs is critical as they vary considerably between regions and ethnic groups. […] Epidemiological studies of IRD in Portugal are scarce. […] A recent study based on the first nationwide survey in Portugal, yet unpublished, estimated the IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals. […] The number of identified patients with IRD varied between regions. […] This study found that IRD patients live in municipalities with aged populations, which may lead to less investment or support. […] The estimated IRD prevalence varied according to the region. […] Multiple targeted vision aid and rehabilitation strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

• #84 SciELO Brazil – Retinal diseases in a reference center from a Western Amazon capital city Retinal diseases in a reference center from a Western Amazon capital city

  https://www.scielo.br/j/eins/a/kYKLGWbhLpxS6kttKcnzJvG/?lang=en

  Diabetic retinopathy was present in 32 patients (24.8%), 27 of which required treatment for proliferative DR or macular edema. […] DR is a preventable disease that can be monitored remotely in early stages. […] Monitoring of patients with diabetes and absent or early-stage retinopathy can be carried out via telemedicine, with a good cost-effectiveness profile. […] Telemedicine is included in the recommendations for Brazilian ophthalmology proposed by the CBO. […] The main retinal diseases in this group of patients were diabetic retinopathy and retinal detachment. Diabetic retinopathy is a preventable cause of blindness, which can be remotely monitored at early stages, through telemedicine strategies. In remote Brazilian locations, telemedicine can be an important tool for monitoring of retinal diseases.

• #85 Retinal Disease Hub. Macular Degeneration | Medically Roche

  https://medically.roche.com/global/en/microsites/retinal-disease.html

  Retinal diseases remain a leading cause of vision loss with increasing global prevalence. […] Retinal disease is a significant public health issue that is now affecting more of us than ever before. The number of people living with two of the leading causes of vision loss – Neovascular Age-related Macular Degeneration (nAMD) and Diabetic Macular Edema (DME) – worldwide is set to grow, further increasing the pressure on health system capacity. […] Although anti-VEGF therapies have redefined the care of patients with retinal diseases, new treatments are still required to reduce treatment burden.

• #86 What Causes Retinal Diseases? | Ocular TherapeutixAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.ocutx.com/retina-focus/what-causes-retinal-diseases/

  Although anti-vascular endothelial growth factor therapy (VEGF) therapy can minimize vision loss in wet AMD and DR patients, real-world data suggest frequent intravitreal injections create a high treatment burden for patients, caregivers and providers. An effective, durable, long-acting treatment that substantially reduces the injection burden on wet AMD and DR patients may improve compliance to a patient’s prescribed therapy and potentially either slow or halt disease-related vision loss.

• #87 Retinal Disease Hub. Macular Degeneration | Medically Roche

  https://medically.roche.com/global/en/microsites/retinal-disease.html

  Retinal diseases remain a leading cause of vision loss with increasing global prevalence. […] Retinal disease is a significant public health issue that is now affecting more of us than ever before. The number of people living with two of the leading causes of vision loss – Neovascular Age-related Macular Degeneration (nAMD) and Diabetic Macular Edema (DME) – worldwide is set to grow, further increasing the pressure on health system capacity. […] Although anti-VEGF therapies have redefined the care of patients with retinal diseases, new treatments are still required to reduce treatment burden.

• #88 Inherited Retinal Diseases for the Retina Specialist: Where to Start – Retina Today

  https://retinatoday.com/articles/2019-july-aug/inherited-retinal-diseases-for-the-retina-specialist-where-to-start

  In addition to the one approved gene therapy, there are more than 30 ongoing middle- and late-stage clinical trials using gene therapy or other molecular therapies for IRDs. […] The Foundation Fighting Blindness, the worlds leading private funding source for inherited retinal disease (IRD) research, has raised more than $750 million toward its mission. […] The US FDA approval of the first gene therapy has ushered in a new era in the treatment of IRDs. In addition to voretigene neparvovec-rzyl (Luxturna, Spark Therapeutics), there are more than 30 middle- and late-stage clinical trials ongoing using gene therapy or other molecular therapies for IRDs, some with encouraging results. […] IRD centers can serve as one-stop shops for the needs of patients with IRDs. IRD specialists can provide specialized workups, an infrastructure for genetic testing and counseling, and access to the latest clinical trials and research.

• #89 Raising the retinal disease treatment bar with genetic testing

  https://www.ophthalmologytimes.com/view/raising-the-retinal-disease-treatment-bar-with-genetic-testing

  Genetic testing is not only important, but according to the American Academy of Ophthalmology, it is appropriate for most patients with presumed genetically caused retinal degeneration. […] In addition, genetic testing is important for surveillance and to rule syndromic disease in or out. […] Further, the testing is vital for identifying patients who may be candidates for clinical trials and therapies. […] When considering the genes associated with current gene-based clinical trials or therapies, she noted, this genetic testing program is making a significant impact in identifying patients who might qualify for therapies. […] The services currently available ensure that all patients can access genetic testing.

• #90 What are Inherited Retinal Diseases (IRDs)? | Eyes On Genes

  https://www.eyesongenes.com/inherited-retinal-diseases/

  Inherited retinal diseases (IRDs) are a group of rare eye disorders caused by at least one gene not working as it should. This can lead to serious vision impairment or vision loss. IRDs typically get worse over time, and some can eventually lead to legal blindness. […] Based on global estimates, approximately 1 in 2000 people has an inherited retinal disease. Each of these people is experiencing how vision loss impacts their daily life. […] Different IRDs can have similar, overlapping symptoms. This can make diagnosing inherited retinal diseases challenging. Therefore, genetic testing has become the benchmark to uncover the genetic cause of your vision loss or impairment. […] All prevalence rates are global estimates and may vary across regions.

• #91 Raising the retinal disease treatment bar with genetic testing

  https://www.ophthalmologytimes.com/view/raising-the-retinal-disease-treatment-bar-with-genetic-testing

  Genetic testing is not only important, but according to the American Academy of Ophthalmology, it is appropriate for most patients with presumed genetically caused retinal degeneration. […] In addition, genetic testing is important for surveillance and to rule syndromic disease in or out. […] Further, the testing is vital for identifying patients who may be candidates for clinical trials and therapies. […] When considering the genes associated with current gene-based clinical trials or therapies, she noted, this genetic testing program is making a significant impact in identifying patients who might qualify for therapies. […] The services currently available ensure that all patients can access genetic testing.

• #92 Raising the retinal disease treatment bar with genetic testing

  https://www.ophthalmologytimes.com/view/raising-the-retinal-disease-treatment-bar-with-genetic-testing

  Genetic testing is not only important, but according to the American Academy of Ophthalmology, it is appropriate for most patients with presumed genetically caused retinal degeneration. […] In addition, genetic testing is important for surveillance and to rule syndromic disease in or out. […] Further, the testing is vital for identifying patients who may be candidates for clinical trials and therapies. […] When considering the genes associated with current gene-based clinical trials or therapies, she noted, this genetic testing program is making a significant impact in identifying patients who might qualify for therapies. […] The services currently available ensure that all patients can access genetic testing.

• #93

  https://link.springer.com/article/10.1007/s00417-024-06634-3

  In this review, different wearable devices relevant for retinal disease monitoring will be discussed, as well as their potential implementation as outcome measures in research/clinical trial settings. […] The digital health revolution prompts us all to engage with this change in paradigm and get acquainted with related technologies such as AI, AR and IoT. Wearable devices in Ophthalmology and in particular for retinal conditions have wide opportunities to detect risk factors (e.g., myopia), diagnose and monitor diseases (e.g., ARMD, RP), work as visual aids, and treat conditions (e.g., amblyopia). […] Many of the devices above show promise in generating relevant objective data.

• #94 The socioeconomic epidemiology of inherited retinal diseases in Portugal | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03161-6

  Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. […] According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. […] The epidemiologic landscape of IRDs is critical as they vary considerably between regions and ethnic groups. […] Epidemiological studies of IRD in Portugal are scarce. […] A recent study based on the first nationwide survey in Portugal, yet unpublished, estimated the IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals. […] The number of identified patients with IRD varied between regions. […] This study found that IRD patients live in municipalities with aged populations, which may lead to less investment or support. […] The estimated IRD prevalence varied according to the region. […] Multiple targeted vision aid and rehabilitation strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

• #95 Inherited retinal diseases (IRDs) | CERAInherited retinal diseases (IRDs) | CERA

  https://www.cera.org.au/conditions/inherited-retinal-diseases/

  Inherited retinal diseases (IRDs) are a broad group of genetic eye conditions that cause vision loss and sometimes, legal blindness. They can occur from birth through to late adulthood. […] IRDs are the leading cause of blindness in working age adults. Altogether, they affect around 1 in 4000 people or over 2 million people worldwide. […] CERA and the University of Melbourne are creating a national clinical database of people with IRDs. The project aims to improve understanding of IRD and find patients who are eligible for clinical trials. […] CERA is leading world-first research into gene therapies that could halt or even reverse vision loss in patients with conditions including inherited retinal diseases and glaucoma. […] Our researchers use cell reprogramming and stem cell technologies to better understand and develop treatments for vision loss, with the goal of regenerating cells in the retina.

• #96

  https://link.springer.com/article/10.1007/s00417-024-06634-3

  In this review, different wearable devices relevant for retinal disease monitoring will be discussed, as well as their potential implementation as outcome measures in research/clinical trial settings. […] The digital health revolution prompts us all to engage with this change in paradigm and get acquainted with related technologies such as AI, AR and IoT. Wearable devices in Ophthalmology and in particular for retinal conditions have wide opportunities to detect risk factors (e.g., myopia), diagnose and monitor diseases (e.g., ARMD, RP), work as visual aids, and treat conditions (e.g., amblyopia). […] Many of the devices above show promise in generating relevant objective data.

Zobacz więcej