视网膜色素变性行精准医疗的机制及方法进展  

The mechanism and methods of precision medicine for retinitis pigmentosa

作　　者：李雨雨 李如意 李根林 LI Yuyu;LI Ruyi;LI Genlin(Beijing Tongren Eye Center,Beijing Tongren Hospital,Capital Medical University,Beijing Ophthalmology&Visual Sciences Key Laboratory,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京同仁医院,北京同仁眼科中心,北京市眼科学与视觉科学重点实验室,北京市100730

出　　处：《眼科新进展》2021年第4期397-400,共4页Recent Advances in Ophthalmology

基　　金：国家自然科学基金(编号81271046);北京市自然科学基金项目暨北京市教育委员会科技发展计划重点项目(编号KZ201510025025)。

摘　　要：原发性视网膜色素变性(RP)引起严重的视网膜营养不良和视力损害,具有高度的临床异质性。基因组测序可以协助RP进行分子诊断来确定致病基因,阐述其发病机制,同时分析基因型-表型的相关性,进而设计个性化治疗方案,奠定精准医疗的基础。本文就RP精准医疗中的基因治疗、基因编辑技术及光遗传学治疗进行综述,以期提供RP精准医疗的方法和应用前景。Primary retinitis pigmentosa(RP)is an inherited degenerative disease causing severe retinal dystrophy and visual impairment,with a high clinical heterogeneity.Genome sequencing can assist RP in molecular diagnosis to determine disease-causing genes,its pathogenesis,and the correlations of phenotype-genotype,so as to design personalized treatment and promote the development of precision medical.In this paper,we summarize gene therapy,gene editing technology and optogenetic methods in RP precision therapy to provide the methods and prospective of RP precision medicine.

关 键 词：原发性视网膜色素变性 精准医疗 基因治疗 基因编辑 光遗传学 

分 类 号：R774.1[医药卫生—眼科]