Study: Average delay to reach a correct inherited retinal disease diagnosis is 15 years

A considerable number of patients face a lengthy delay in receiving an accurate inherited retinal disease (IRD) diagnosis, primarily because the genetic evaluation and testing process was not initiated promptly, according to a new study. In addition, in a significant portion of cases, the initial clinical diagnosis was incorrect. As a result, these patients were potentially deprived of appropriate recurrence risk counseling, relevant educational resources, referrals to specialists in syndromic cases, and timely eligibility for clinical trials.

The study involved an analysis of 131 consecutive patients with suspected IRDs who were referred to an ophthalmic genetics specialty service. Out of the 131 patients, 51 underwent genetic testing, and the diagnostic yield was found to be 69%.

The study found that 51% of patients who underwent genetic testing had received an incorrect initial referral clinical diagnosis. This highlights the challenges faced by healthcare providers in accurately identifying and diagnosing IRDs.

The average time it took for individuals to receive a correct diagnosis was 15 years. Among the healthcare professionals involved in the referral process, ophthalmologists accounted for the majority at 80%. Neurologists represented a smaller portion, comprising 5% of the referrals. Within the field of ophthalmology, pediatric and retinal specialists were the most referred subspecialties, with pediatric specialists accounting for 44% of referrals and retinal specialists representing 35%.

Reference
Shah AH, Park E, Luke T, et al. The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease. Retin Cases Brief Rep. 2023;10.1097/ICB.0000000000001436. Epub ahead of print. PMID: 37116464.