More than half of patients with IRD who undergo genetic testing have an incorrect initial clinical diagnosis

Many patients with inherited retinal diseases (IRDs) experience a delay in receiving a correct diagnosis due to a delay in genetic evaluation and testing, according to a study presented at the 2023 AAOPS Annual Meeting. The data also highlights that many patients are initially misdiagnosed, potentially leading to missed opportunities for appropriate counseling, resources, referrals, and clinical trial eligibility.

The study analyzed 131 patients with suspected IRDs referred to an ophthalmic genetics specialty service. The average age of the patients was 24 years. Of those who underwent genetic testing, 69% received a diagnosis. Genetic testing also revealed that 51% of patients had an incorrect initial clinical diagnosis. The average delay in reaching a correct diagnosis was 15 years. Ophthalmologists were the largest referral base at 80%, followed by neurologists at 5%. Among ophthalmic subspecialties, pediatric and retinal specialists were the largest referral groups at 44% and 35%, respectively.

These findings highlight the need for further investigation into the challenges faced by patients with IRDs.

Reference
Shah A, et al. The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease. Presented at: 2023 AAOPS Annual Meeting.