BACKGROUND RPE65-associated LCA (RPE65-LCA) is an inherited retinal degeneration caused by the mutations of RPE65 gene and gene therapy has been developed to be a promising treatment. This study aims to evaluate the association between changes in visual function and application of gene therapy in patients with RPE65-LCA. METHODS Several databases (PubMed, Cochrane Library, and Web of Science) were searched for results of studies describing efficacy of gene therapy in patients with RPE65-LCA. Six studies, which included one randomized and five prospective non-randomized clinical trials, 164 eyes met our search criteria and were assessed. RESULTS The BCVA significantly improved in treated eyes at 1 yr post treatment by - 0.10 logMAR (95% CI, - 0.17 - -0.04; p = 0·002), while there was no significant difference at 2-3 years post treatment (WMD: 0.01; 95% CI, - 0.00 - 0.02; p = 0·15). FST sensitivity to blue flashes also improved by 1.60 log (95% CI, 0.66-2.55; p = 0.0009), but no significant difference to red flashes (WMD: 0.86; 95% CI, - 0·29-2.01; p = 0.14) at 1 yr. There was no significant difference in central retinal thickness at 1 yr, but central retina in treated eyes appeared thinner at 2-3 years post treatment by 19.21 μm (95% CI, - 34.22 - -4.20; p = 0.01). CONCLUSIONS Human gene therapy is a pioneering treatment option for RPE65-LCA. Although its efficacy appears to be limited to less than 2 yrs after treatment, it carries the potential for further improvement and prolongation of efficacy.

中文翻译：

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人类基因治疗RPE65相关的Leber先天性黑蒙症对视觉功能的影响：系统评价和荟萃分析。

背景技术与RPE65相关的LCA（RPE65-LCA）是由RPE65基因突变引起的遗传性视网膜变性，并且基因治疗已被开发为有前途的治疗方法。这项研究旨在评估RPE65-LCA患者视觉功能改变与基因治疗应用之间的关联。方法从几个数据库（PubMed，Cochrane图书馆和Web of Science）中搜索描述基因治疗RPE65-LCA患者疗效的研究结果。六项研究（包括一项随机和五项前瞻性非随机临床试验）中有164眼符合我们的搜索标准并进行了评估。结果治疗后1年，治疗后的眼睛的BCVA显着提高-0.10 logMAR（95％CI，-0.17--0.04； p = 0·002），而治疗后2-3年无明显差异（WMD） ：0。01; 95％CI，-0.00-0.02; p = 0·15）。FST对蓝闪的灵敏度也提高了1.60 log（95％CI，0.66-2.55; p = 0.0009），但与红闪无显着差异（WMD：0.86; 95％CI，-0·29-2.01; p = 0.14 ）在1年。1年时视网膜中央视网膜厚度无明显差异，但治疗后2-3年，经治疗的眼睛中央视网膜变薄了19.21μm（95％CI，-34.22--4.20； p = 0.01）。结论人类基因疗法是RPE65-LCA的开创性治疗选择。尽管其疗效似乎仅限于治疗后不到2年，但它具有进一步提高疗效和延长疗效的潜力。-0·29-2.01；在1年时p = 0.14）。1年时视网膜中央视网膜厚度无明显差异，但治疗后2-3年，经治疗的眼睛中央视网膜变薄了19.21μm（95％CI，-34.22--4.20； p = 0.01）。结论人类基因疗法是RPE65-LCA的开创性治疗选择。尽管其疗效似乎仅限于治疗后不到2年，但它具有进一步提高疗效和延长疗效的潜力。-0·29-2.01；在1年时p = 0.14）。1年时视网膜中央视网膜厚度无显着差异，但治疗后2-3年，经治疗的眼睛中央视网膜变薄了19.21μm（95％CI，-34.22--4.20； p = 0.01）。结论人类基因疗法是RPE65-LCA的开创性治疗选择。尽管其疗效似乎仅限于治疗后不到2年，但它具有进一步提高疗效和延长疗效的潜力。