Abbass Nadia J, Yazji Isabella, Allan Kevin C, Kaelber David C, Talcott Katherine E, Singh Rishi P
Case Western Reserve University School of Medicine (N.J.A., I.Y.), Cleveland, Ohio; Center for Ophthalmic Bioinformatics (N.J.A., I.Y., K.C.A., K.E.T., R.P.S.), Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
Center for Ophthalmic Bioinformatics (N.J.A., I.Y., K.C.A., K.E.T., R.P.S.), Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
Am J Ophthalmol. 2025 Jul 22;279:165-173. doi: 10.1016/j.ajo.2025.07.021.
Advances in genetic testing for inherited retinal diseases (IRDs) have enhanced diagnostic accuracy and many clinical trials offer hope for emerging treatment options. Despite this, there is limited data on the prevalence and demographic breakdown of IRDs in the United States (US). This study aims to characterize the incidence and prevalence of IRDs in the US, identify trends over time, and examine disparities by age, sex, race, and ethnicity.
Trend study (2016-2023) PARTICIPANTS: Patients with ICD-10 diagnosis codes for pigmentary retinal dystrophy (H35.52), choroideremia (H31.21), achromatopsia (H53.51), congenital night blindness (H53.63), and hereditary retinal dystrophy (H35.5).
This study utilized data from an aggregated, deidentified electronic health record platform with over 117 million US patients. Prevalence was determined by dividing all patients with the ICD-10 IRD code by the total number of patients for the study year. Incidence was determined by dividing only patients with a new instance of the ICD-10 code of interest within a certain year by the total number of patients for the same year.
Incidence, prevalence, prevalence odds ratios (POR), proportion ratios (PR), and 95% confidence intervals were calculated and reported.
In 2023, the overall prevalence of IRDs in the US was 106 per 100 000 persons, a 1.84-fold (CI, 1.81-1.87) increase from 2016. Annual incidence also increased significantly, from 12.5 to 15.5 per 100 000 from 2016 to 2023 (PR 1.24, CI 1.19-1.28). Males exhibited a significantly higher risk of choroideremia (POR 5.17, CI 4.07-6.59), achromatopsia (POR 1.65, 1.43-1.91), and congenital stationary night blindness (POR 2.58, CI 2.11-3.15) compared to females. White patients were disproportionately diagnosed with IRDs compared to Black and Hispanic populations for nearly all conditions. Age distribution varied by condition, but the prevalence of all IRDs combined increased with increasing age.
Our findings suggest an increased ascertainment of the incidence and prevalence of IRDs in the US in the setting of diagnostic and treatment advances. We also reveal previously unreported disparities in the prevalence of these conditions by race, highlighting a potential gap in our understanding of genetic disease in diverse populations.
