Genetic testing shows promise for nonparaneoplastic autoimmune retinopathy

Genetic testing can be valuable in diagnosing nonparaneoplastic autoimmune retinopathy within the broader category of retinopathy of unknown origin (RUO), but it may not be beneficial for other RUO subtypes like unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy, according to a study.

The multicenter retrospective study sought to evaluate the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes among patients with RUO (N = 12).

The study categorized RUO cases into 4 types: nonparaneoplastic autoimmune retinopathy, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy. Of the 12 patients included (mean age 45.6 years), 7 exhibited class 3 genetic variants, with 2 of these also showing class 5 variants. The genetic analysis refined the diagnosis for 1 patient (8.3%) with nonparaneoplastic autoimmune retinopathy. However, the genetic testing did not benefit patients in the other RUO categories.

The findings suggest that gene panel testing should be considered for patients with suspected nonparaneoplastic autoimmune retinopathy to ensure accurate diagnosis and treatment. In contrast, the study found no diagnostic advantage for genetic testing in other RUO subpopulations.

Reference
Abramowicz S, Meunier A, Postelmans L, Caspers L, Corazza F, De Bruyne M, Van de Sompele S, De Baere E, Leroy BP, Willermain F, Draganova D. Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin. Retina. 2024;44(9):1597-1607. doi: 10.1097/IAE.0000000000004155. PMID: 39167581.