Abstract
Purpose :
Down Syndrome (DS) impacts retinal health through amyloid-β protein precursor deposition, accelerated senescence, and anatomic variations in retinal vasculature and foveal thickness. Due to these mechanisms, there may be increased prevalence or earlier age of onset of retinal disease in patients with DS compared to the general population. Few studies have explored retinal disease epidemiology in DS. The purpose of this study was to explore the risk of retinal disease in DS patients.
Methods :
This study was conducted through the TriNetX database (a combined electronic health records database of over 50 systems; collected in November 2022) utilizing ICD codes for various retinal diagnoses (Table 1). Relative risk (RR) between the total population and DS population was calculated for each retinal diagnosis. To account for unequal life expectancies between groups, only data for patients aged 55 and younger were included, as 55 is the average life expectancy of patients with DS.
Results :
56,222,710 total patients aged 55 and under were included (mean age 30±15 years, 53% female), of whom 83,563 had a diagnosis of DS (mean age 23±15 years, 57% female). 42.3% of included DS patients had an ophthalmic diagnosis compared to 10.6% of the total population (RR: 4.01, 95% CI: (3.97, 4.04)) and 2.9% had a retinal diagnosis compared to 0.6% of the total population (RR: 4.57, 95% CI: (4.38, 4.76)). Nearly all retinal diagnoses had a significantly elevated risk for patients with DS compared to the total population (Table 2), including type 2 diabetic retinopathy (RR: 2.04, 95% CI: (1.73, 2.41)), retinal detachment or break (RR: 7.19, 95% CI: (6.69, 7.73)), retinal vascular occlusion (RR: 1.51, 95% CI: (1.02, 2.23)), and age-related macular degeneration (RR: 3.34, 95% CI: (2.10, 5.31)).
Conclusions :
The risk of essentially all retinal diagnoses is elevated in DS patients age 55 and younger compared to the total population, suggesting increased prevalence and earlier ages of onset for retinal disease in DS patients compared to the general population. This suggests that DS patients may benefit from increased and earlier screening for retinal disease.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.