LCA2型基因治疗临床试验研究进展

Leber先天性黑矇(Leber''s congenital amaurosis，LCA)是一种遗传性致盲性眼病，在婴儿早期出现严重的视力低下或丧失丧失。该疾病的LCA2型与RPE65的突变相关。既往对于LCA2在内的遗传性视网膜疾病无有效治疗方法。近年来，随着基因治疗技术的进步，遗传性视网膜疾病的治疗进展取得了巨大进步，其中最成功的便是LCA2的基因治疗。本文简要介绍了LCA2基因治疗的发展，并对既往LCA2临床试验中的注射剂型、剂量、注射方式、测量方法、治疗效果与年龄的相关性和治疗效果的稳定性进行综述，为LCA2基因治疗进入我国临床工作提供参考及临床治疗经验。

Progress in research on LCA2 gene therapy

Leber''s congenital amaurosis(LCA)is a genetic eye disease that can cause blindness. Infants with LCA may have a severe low vision or loss of vision at the early stage. The LCA2 type of this disease is related to RPE65 mutation. According to previous studies, there is no effective treatment for genetic retinal diseases including LCA2. In recent years, with the advances in gene therapy technology, great progress in the treatment of genetic retinal diseases has been made, among which the most successful one is the gene therapy of LCA2. This paper briefly introduces the development of the gene therapy of LCA2, and reviews the correlation between age and injection type, dosage, injection method, measuring method as well as therapeutic effect and the stability of therapeutic effect in previous clinic trials, which provides reference and clinical treatment experience for the clinical application of the gene therapy of LCA2 in China.