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Meta-Analysis
. 2023 Jan 24:2023:1107866.
doi: 10.1155/2023/1107866. eCollection 2023.

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis

Jiajia Yuan  1 , Jiaxun Zhao  2 , Chong Ye  2 , Long Pang  2 , Xin Zhang  3   4 , Alvin Luk  3   4 , Yangyang Du  5 , Kai Yoon Fan  3 , Xiaowen Zhang  3 , Bin Li  3 , Changzheng Chen  1
Affiliations
Meta-Analysis

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis

Jiajia Yuan et al. Biomed Res Int. .

Abstract

Background: 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.

Methods: 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.

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%).

Conclusions: 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.

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Conflict of interest statement

None of the authors have any conflicts of interest.

Figures

Figure 1
Figure 1
Flow chart of article selection.
Figure 2
Figure 2
Forest plot of G11778A mutation rate.
Figure 3
Figure 3
Forest plot of G11778A mutation rate in Asia-Pacific.
Figure 4
Figure 4
Forest plot of G11778A mutation rate in Europe.
Figure 5
Figure 5
Forest plot of male ratio among of G11778A LHON patients.
Figure 6
Figure 6
Forest plot of patient age.
Figure 7
Figure 7
Forest plot of patient onset age.
Figure 8
Figure 8
Forest plot of visual acuity (LogMAR).
Figure 9
Figure 9
Forest plot of spontaneous visual recovery rate.
See this image and copyright information in PMC

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