A recent study analyzed 191 patients with IRD using targeted next-generation sequencing (NGS), to identify 359 variants, including 44 novel ones, across 340 genes. Study findings were published online in Genes. The overall genetic diagnostic yield was 41%, varying by disease subtype; higher rates were observed for well-defined conditions like Stargardt disease (65%) and congenital stationary night blindness 2 (64%). Diagnostic yield increased to 68% when family segregation studies were possible and was higher in patients of a younger age (55%) compared to older patients (33%). Based on these findings, the authors noted that this underscored NGS’s efficacy in diagnosing IRDs and highlighted the importance of family studies in understanding variant pathogenicity. Despite challenges posed by genetic heterogeneity, these findings contribute to genotype-phenotype correlations crucial for prognosis, familial risk assessment, and therapeutic intervention eligibility in patients with IRD. Future research should focus on refining variant classification and exploring targeted therapies based on genetic insights.
