New research sheds light on prevalence of inherited retinal diseases in the US

A new study found that although inherited retinal diseases (IRDs) are rare, they can cause devastating visual impairments, with the most common IRDs affecting the neurosensory retina and RPE, followed by choroidal diseases and color blindness.

Results from the study, which used the American Academy of Ophthalmology IRIS® Registry data, were presented at ASRS 2023 by Ahmad Al-Moujahed, MD, PhD, MPH.

Key findings include:
-Three specific IRDs were focused on: retinitis pigmentosa (RP), choroideremia, and color blindness.
-RP was the most prevalent IRD, followed by choroideremia and color blindness.
-Age distributions varied among the conditions, with most RP and choroideremia patients falling in the 45-64 age group, while color blindness cases were predominantly in the 0-17 age range.
-Choroideremia patients had the worst visual acuity at the time of diagnosis compared to RP and color blindness patients.
-RP and choroideremia patients were more likely to develop cataracts, rhegmatogenous retinal detachment (RRD), cystoid macula edema (CME), and choroidal neovascularization (CNV) compared to color blindness patients.

The findings underscore the importance of monitoring and managing comorbid conditions that may further affect the vision of IRD patients. Overall, the study highlights the impact of IRDs and the need for ongoing research and support to improve the lives of those affected by these visually devastating diseases.

Reference
Al-Moujahed A. Epidemiology of Inherited Retinal Diseases in the United States: IRIS Registry (Intelligent Research In Sight) Analysis. Presented at: ASRS 41st Annual Meeting.