Study finds that inherited retinal disease impacts overall survival

Byron Lam, MD, of the Bascom Palmer Eye Institute at the University of Miami, discussed the findings of his study presented at the 2024 AAO Annual Meeting, titled “Real-World Comparison of Overall Survival Among Patients With and Without Inherited Retinal Diseases.”

Byron Lam, MD:

Inherited retinal disease encompasses many different diagnoses including retinitis pigmentosa, Stargardt disease, and currently there are no approved therapy for almost all of the IRD diseases except one, which is the RPE65 inherited retinal disease.

Patients with visual impairment from IRDs experience a decreased quality of life, and this would be an impact on their mental health as well as their difficulty in exercising and having a healthy lifestyle. The goal of this study is really to determine whether IRD has an impact on the survival of patients with IRD versus those who don’t have IRDs.

This particular study examined using a very large available database, the Optum EHR database, which is a longitudinal clinical repository, which is derived from dozens of large healthcare provider organizations. This includes more than 106 million patients. There was a 12-month baseline period followed by an observation period. During this period, the diagnosis of IRD was determined in terms of whether the patient had 1 diagnosis or greater during the baseline period. This was then compared to the survival after the baseline period between those with IRD and without IRD.

In general, the number of patients we had with IRD was over 31,000, and then those without IRD represented nearly 10 million people. I think in terms of the statistical analysis, we used Kaplan-Meier curve rates, and I think the upshot of these findings is that the average follow up of 4.5 years, patients with IRD had a 24% increased risk of death relative to those without IRD.

This study also really tried to control for different factors as well using a methodology that there’s not really bias the results. Currently, the paper is being written. But I think what is most important for the clinicians to know is that, in fact, IRD has a great deal of impact on a person’s general health, and this obviously has then an impact on their survival or mortality. I think this also means that clinicians should be aware of this and also consider referral and consider also social services to help these patients.