| Abstract [eng] |
Inherited retinal dystrophies are a group of relatively rare genetic disorders that cause progressive degeneration of the retina, leading to vision loss, which causes lots of difficulties and challenges to patients in everyday life. There are found over 250 disease genes associated with inherited retinal dystrophies, for which genetic and clinical heterogeneity is common. Gene therapy is a promising approach for treating inherited retinal dystrophies, and advances in genome sequencing techniques in last decades have allowed not only to diagnose and prognose the disease but also to identify the way for development of new treatments. Although, due to its unique anatomical and functional characteristics, the retina is a favorable tissue for gene therapy, there are still challenges in translating the approach from preclinical animal trials to human clinical trials. Therefore, more research is needed to optimize these treatments and ensure their safety and efficacy in humans. This review discusses the complexity of retinal dystrophies and highlights recent progress in molecular diagnosis, gene therapy for inherited retinal dystrophies. Recently, the first gene therapy product that is aproved is voretigene neparvovec-rzyl (Luxturna), which is used for disorderds caused by mutations in gene RPE65 - Leber congenital amaurosis and some cases of retinitis pigmentosa – allows to halt the progress of the patient‘s disease and improve visual acuity and also, it is a significant achievement that signals the start of a new era in the treatment of inherited retinal dystrophies. |
