Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies

Inherited retinal dystrophies (IRDs) represent a diverse group of rare pathologies affecting vision with significant genetic and clinical variability. Clinical exome sequencing (CES) was performed on 143 families clinically diagnosed with IRDs. The obtained variants were filtered and classified according to the American College of Medical Genetics guidelines. Overall, a genetic diagnosis was achieved for 68.53% of the families in the cohort, with 35 causative genes identified, predominantly ABCA4 and USH2A.