Study Finds Inherited Retinal Disease on the Rise

Advances in diagnostic technology and clinical trials may be boosting the number of patients receiving IRD diagnoses. Photo: Jessica Haynes, OD. Click image to enlarge. Genetic studies have enhanced our understanding of inherited retinal diseases (IRDs), with more than 300 genes linked to pathogenesis. As a result of genetic technology such as gene sequencing, diagnosing IRDs has become easier and more cost efficient. As more gene therapies enter trials and come to market, experts point out the importance of understanding the impact of IRDs in the United States. A study published recently in American Journal of Ophthalmology analyzed IRD prevalence and incidence in more than one third of the United States population. The findings pointed to increasing numbers of IRDs and highlighted several disparities in care.In their trend study (2016 to 2023), the researchers obtained data from a deidentified electronic health records platform with more than 117 million US patients. They analyzed data from patients with ICD-10 diagnoses for pigmentary retinal dystrophy, choroideremia, achromatopsia, congenital night blindness and hereditary retinal dystrophy.They reported that, in 2023, the overall IRD prevalence was 106 cases per 100,000 persons, which represented a 1.84-fold increase from 2016. The annual incidence also increased over the study period, from 12.5 to 15.5 per 100,000. Compared to female patients, male patients had a significantly higher risk of choroideremia, achromatopsia and congenital night blindness. The researchers also found that white patients were disproportionally diagnosed with IRDs compared to Black and Hispanic patients for almost all conditions, despite the fact that European ancestry and African ancestry individuals have nearly identical genetic prevalence. Prevalence of all IRDs increased with increasing age.The researchers concluded in their paper that their analysis “by age, sex, race and ethnicity provides further important granularity, particularly in a population with significant diversity. These findings characterize the US populations affected by these conditions and may serve to advise many of the ongoing clinical trials for new IRD treatments, particularly gene-agnostic therapies. Furthermore, this work brings attention to previously unrevealed disparities, highlighting the need for additional focus in this area.”Click here for the journal source. Abbass NJ, Yazji I, Allan KC, et al. Trends and disparities in the incidence and prevalence of inherited retinal diseases in the United States. Am J Ophthalmol. July 21, 2025. [Epub ahead of print]. This article was developed by the editorial staff in conjunction with experts in the field. In the process, AI may have been among the editorial tools used to meet the goals of human editors, who approved all content.