基因治疗视网膜色素变性的机遇与挑战

Opportunities and challenges of gene therapy for retinitis pigmentosa

原发性视网膜色素变性(retinitis pigmentosa,RP)是发病机制尚未完全明确的视网膜退行性病变,以夜盲、进行性视野缩窄和视力下降为主要临床特征.目前发现单基因缺陷是RP的主要病因,已知有超过90个基因与RP发病相关,但临床缺乏有效干预措施.近年来基因治疗技术取得突破,为RP治疗带来了曙光.然而,基因治疗仍有许多尚未解决的科学问题和亟待突破的技术瓶颈.需要结合自然病程研究,科学、精准地开展针对不同遗传类型RP的基因治疗.

Retinitis pigmentosa(RP)is a degenerative retinal disease and the pathogenesis has not been fully defined.The main clinical features include night blindness,progressive visual field narrowing,and vision loss.At present,it is believed that single gene defects are the main cause of RP.There are more than 90 genes known to be related to the pathogenesis of RP,but there is currently no effective intervention in clinical practice.In recent years,the development of gene therapy has achieved breakthroughs,bringing dawn to RP treatment.However,there are still many unresolved scientific problems and technical bottlenecks that need to be broken through.It is necessary to take the research of natural disease course into consideration and carry out gene therapy for RP of different genetic types scientifically and accurately.