INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES.

Abstract

Purpose: To evaluate the presence of American College of Medical Genetics and Genomics class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in posterior or panuveitis with dystrophic features (PUD) in a Belgian cohort.

Methods: Multicentric, retrospective study of PUD cases diagnosed between January 2012 and February 2022. Inherited retinal disease gene panels were analyzed in every patient. Three PUD categories were defined as follows: idiopathic posterior or panuveitis with retinitis pigmentosa-like features (PURPL), idiopathic posterior or panuveitis with other dystrophic features (PUOD), and posterior or panuveitis with established ophthalmological or systemic etiology and dystrophic features (POSED).

Results: The authors included 12 patients (7 women, 5 men). The mean age at inclusion was 52.2 years (26-80 years). Three patients demonstrated class 4 or 5 variants in genes that led to a diagnostic reclassification. One patient had a class 3 variant in an X-linked IRD gene that possibly explained his phenotype. Seven patients had variants in IRD genes that could not explain their phenotype. One patient had a negative panel result.

Conclusion: Inherited retinal disease gene panel analysis allowed diagnosis refinement in 3/12 (25%) patients in the PUD cohort, all belonging to the PURPL subgroup. The authors recommend that all patients with PURPL benefit from gene panel testing to avoid overlooking undiagnosed IRDs.