关键词: 视网膜疾病/遗传性, 基因诊断, 基因治疗

Abstract: Inherited retinal diseases are a group of blindness disease with high clinical and genetic heterogeneity. Clinical diagnosis cannot provide enough information for etiology, treatment and prognosis. Genetic diagnosis, by identifying the disease-causing mutation, is very important for genetic counseling and proper therapy. Traditional genetic testing techniques include linkage analysis, direct sequencing (Sanger sequencing) and DNA chip technology. Recently, next generation sequencing (NGS) has been successfully applied to a variety of retinal disease researches, which improved the molecular diagnostic rate and reduced time and cost. Genetic diagnosis of hereditary retinal diseases in China is in the early stage. Funding support, specialized personnel and professional standards are essential for an ideal clinical diagnostic platform.

Key words: retinal diseases/ hereditary, genetic diagnosis, genetic therapy