Risk of Systemic Comorbidities in Patients With Inherited Retinal Diseases

There is limited evidence of the rates at which inherited retinal disease (IRD) patients experience systemic conditions. This study aimed to evaluate the association between IRDs and systemic comorbidities to inform appropriate screening and referral guidelines for ophthalmologists.

This was a retrospective cohort study utilizing a large International Classification of Diseases, Tenth Revision (ICD-10) coded platform. Patients with ≥ 2 IRD ICD-10 codes were compared to controls (1:1) propensity matched on demographics. Syndromic IRDs could not be disaggregated.

At 5 years, patients with IRDs (n = 13,471) demonstrated higher rates of hypertension (risk ratio [RR] 1.16, 95% CI 1.12-1.20, P < .001), peripheral vascular disease (RR 1.74, 1.48-4.05, P < .001), cerebral infarction (RR 1.31, 1.14-1.52, P < .001), chronic kidney disease (RR 1.85, 1.65-2.06, P < .001), renal failure (RR 2.37, 1.60-3.52, P < .001), hearing loss (RR 4.52, 3.92-5.22, P < .001), ataxia (RR 3.46, 2.47-4.83, P < .001), intellectual disabilities (RR 5.14, 3.61-7.30, P < .001), and diabetes (RR 1.40, 1.32-1.48, P < .001). Ten-year analysis confirmed significant increases in these comorbidities.

IRD patients exhibit higher rates of cardiovascular, renal, and neurologic conditions, highlighting the importance of routine screening to monitor, detect, and treat these comorbidities.