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

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.