关键词: 遗传性视网膜疾病, 基因治疗, 临床试验

Abstract: Hereditary retinal degenerative (HRD) diseases are a leading cause of irreversible blindness. Retinal cell death is the main cause of vision loss in genetic disorders such as retinitis pigmentosa, Stargardt disease, and Leber congenital amaurosis. For these blinding conditions, gene therapy approached offers valuable therapeutic intervention at various disease stages. The last few years have shown rapid growth in genetic therapy advancement for the treatment of HRD. Mutation-specific genetic therapies for some retinal degenerations have now transitioned from over a decade of preclinical studies to phase I/II/III clinical trials, and success in the development of cutting-edge therapies for these diseases would change the lives of many individuals. The present review outlines advances in clinical trials for retinal degenerative disease, focusing on the progress, challenges and prospective in the development and clinical translation of gene therapy. (Ophthalmol CHN, 2020, 29: 241-245)

Key words: hereditary retinal diseases, gene therapy, clinical trial