遗传性视网膜疾病基因治疗趋势与面临的挑战

摘要

基因诊断技术的快速发展,为基因治疗奠定了基础并拓展了广阔空间.基因替代疗法、抗新生血管基因疗法、光遗传基因疗法等多种方法的视网膜疾病基因治疗临床试验正在开展并取得丰硕成果,逐步证实了遗传性视网膜疾病基因治疗的有效性和安全性.新兴的基因编辑技术在治疗视网膜显性遗传或基因较大不能应用腺相关病毒载体治疗的隐性遗传病的动物实验研究也展现了良好的前景,使大部分视网膜遗传疾病理论上都有希望用安全高效的腺相关病毒载体得到治疗.了解遗传性视网膜疾病基因治疗趋势与面临的挑战,共同努力面对挑战,相信基因治疗很快将造福于中国遗传性视网膜疾病患者.%The rapid development of genetic diagnosis-related technologies has paved a wide road for gene therapy.Different gene therapy clinical trials for retinal disorders,including gene-replacement therapy,anti-neovascular gene therapy and opotogenetic gene therapy,have been developed and achieved fruitful results,which have gradually confirmed the efficacy and safety of adeno-associated virus (AAV)-mediated gene therapy for recessive retinal diseases.In recent years,novel gene editing technologies also shows great potential to treat dominant retinal disease,or recessive retinal disease when the therapeutic gene fragments are too long to fit into the AAV vectors.These results make it possible for most of the patients with inherited retinal diseases to be treated by the safe and effective AAV-mediated gene therapy,which will also benefit Chinese patients soon.