DNA Diagnosis in Case Series of Hereditary Retinal Dystrophy

摘要

Retinal dystrophy is highly heterogeneous, "frequent among rare" inherited eye pathology which results in blindness. Though some common forms of retinal dystrophy are associated with well-known and years ago established genes, hundreds of others are found and kept being revealed to be involved in its pathogenesis. In this study for genetic testing, a whole-exome sequencing by next-generation sequencing (NGS) was implied, which included bioinformatic analysis using open algorithms and recommendations on filtering. We reported 6 solved using NGS cases of hereditary retinitis pigmentosa associated with pathogenic variants in the genes PRPF31, IFT140, RGS9, RPGR, RP1.