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INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES
Stéphane Abramowicz1,2, Audrey Meunier1, Dafina Draganova1,2
1Department of Ophthalmology, Saint-Pierre University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
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.
