Prevalence and diversity of retinal disease in adults with Down syndrome

While epidemiologic data exists for some ophthalmic diseases in people with Down Syndrome (DS), like strabismus and amblyopia, no studies explore the prevalence of retinal disease in people with DS on a large scale. This study utilized a literature review and exploratory epidemiology analysis to examine patterns of retinal disease in people with DS. To evaluate previous studies on physiology and/or anatomy in retinal models representing DS or in the retinas of people with DS, all relevant terms related to Down Syndrome, retina, and retinal diseases were searched in PubMed and Scopus. Data from the health platform TriNetX was then utilized to determine the prevalence and prevalence odds ratio (POR) of retinal disorders, including diabetic retinopathy and age-related macular degeneration (AMD), within the U.S. adult population with DS. The final literature review included 28 of 535 screened studies and found that a DS diagnosis was associated with atypical retinal vascularization, retinal thickening, and abnormal neuronal development. Of 55,198,979 individuals included in the population study, 97,795 (0.18%) had a recorded DS diagnosis. Compared to the population without DS, the population with DS had significantly increased PORs for any retinal diagnosis (3.78, 95% CI 3.63-3.93), for 16 of 18 recorded individual retinal diagnoses, and for 4 of 5 major diagnostic categories, including diabetic retinopathy (2.56, 95% CI 2.33-2.82) and macular degeneration (4.01, 95% CI 3.42-4.71). The conclusion is that retinal anomalies common to people with DS likely contribute to higher rates of recorded retinal disease. However, future studies should evaluate this relationship.