Department of Ophthalmology, Renmin Hospital of Wuhan University, Wuhan, China.
Real-World Solutions, IQVIA, Shanghai, China.
Biomed Res Int. 2023 Jan 24;2023:1107866. doi: 10.1155/2023/1107866. eCollection 2023.
LHON is a progressive disease with early disease onset and male predominance, usually causing devastating visual loss to patients. These systematic review and meta-analysis are aimed at summarizing epidemiology, disease onset and progression, visual recovery, risk factors, and treatment options of Leber's hereditary optic neuropathy (LHON) with mitochondrial DNA mutation G11778A from current evidence.
The PubMed database was examined from its inception date to November 2021. Data from included studies were pooled with either a fixed-effects model or a random-effects model, depending on the results of heterogeneity tests. Sensitivity analysis was conducted to test the robustness of results.
A total of 41 articles were included in the systematic review for qualitative analysis, and 34 articles were included for quantitative meta-analysis. The pooled estimate of proportion of G11778A mutation among the three primary mutations of mitochondrial DNA (G11778A, G3460A, and T14484C) for LHON was 73% (95% CI: 67% and 79%), and the LHON patients with G11778A mutation included the pooled male ratio estimate of 77% (76% and 79%), the pooled age estimate of 35.3 years (33.2 years and 37.3 years), the pooled onset age estimate of 22.1 years (19.7 years and 24.6 years), the pooled visual acuity estimate of 1.4 LogMAR (1.2 LogMAR and 1.6 LogMAR), and the pooled estimate of spontaneous visual recovery rate (in either 1 eye) of 20% (15% and 27%).
The G11778A mutation is a prevalent mitochondrial DNA mutation accounting for over half of LHON cases with three primary mutations. Spontaneous visual recovery is rare, and no effective treatment is currently available.
LHON 是一种进行性疾病，发病早，男性居多，通常导致患者视力严重丧失。本系统评价和荟萃分析旨在总结当前证据中具有线粒体 DNA 突变 G11778A 的莱伯遗传性视神经病变（LHON）的流行病学、发病和进展、视力恢复、危险因素和治疗选择。
从数据库建立到 2021 年 11 月，检索 PubMed 数据库。根据异质性检验结果，采用固定效应模型或随机效应模型对纳入研究的数据进行汇总。进行敏感性分析以检验结果的稳健性。
共有 41 篇文章进行了系统评价定性分析，34 篇文章进行了定量荟萃分析。线粒体 DNA（G11778A、G3460A 和 T14484C）三种主要突变中 G11778A 突变在 LHON 中的比例汇总估计值为 73%（95%CI：67%和 79%），G11778A 突变的 LHON 患者中汇总的男性比例估计值为 77%（76%和 79%），汇总的年龄估计值为 35.3 岁（33.2 岁和 37.3 岁），汇总的发病年龄估计值为 22.1 岁（19.7 岁和 24.6 岁），汇总的视力估计值为 1.4 LogMAR（1.2 LogMAR 和 1.6 LogMAR），以及汇总的自发视力恢复率（在 1 只眼中）估计值为 20%（15%和 27%）。
G11778A 突变是一种常见的线粒体 DNA 突变，占三种主要突变的 LHON 病例的一半以上。自发视力恢复罕见，目前尚无有效治疗方法。
