Beyond Darkness: Advanced Genetic Characterization in Patients with Inherited Retinal Dystrophies

Inherited retinal dystrophies (IRD) are a group of rare retinal diseases characterized by significant clinical and genetic heterogeneity, with over 270 associated genes complicating diagnosis. Genetic characterization of patients is essential for accessing therapies, participating in clinical trials, and providing genetic counseling. In this thesis, 183 patients were studied using gene panels and whole-genome sequencing (WGS). Additionally, a bioinformatics algorithm was developed to facilitate the analysis of WGS data, and the effect of variants on the splicing process was investigated using midigene assays. This approach enabled the genetic characterization of 95 out of the 183 patients, highlighting the effectiveness of WGS combined with midigene assays in resolving complex cases.