期刊
EUROPEAN JOURNAL OF OPHTHALMOLOGY
卷 22, 期 3, 页码 461-465出版社
WICHTIG EDITORE
DOI: 10.5301/ejo.5000055
关键词
Epidemiology; Leber hereditary optic neuropathy; m.11778G > A; m.14484T > C; m.3460G > A; Mitochondrial disorder
资金
- Santhera Pharmaceuticals
PURPOSE. A meta-analysis was conducted to estimate the prevalence of patients with molecularly confirmed Leber hereditary optic neuropathy (LHON) carrying any of the 3 primary mtDNA mutations (m.11778G > A, m.14484T > C, m.3460G > A) which cause this inherited form of blindness. METHODS. A literature search was conducted to identify primary reports with LHON prevalence data reported for Europe. The overall prevalence of LHON with molecularly confirmed diagnosis was evaluated by weighting the prevalence estimates of the individual studies by the inverse of their variance. RESULTS. Based on this meta-analysis of 5 European studies providing appropriate information, the estimated prevalence of LHON disease associated with the combined m.11778G > A, m.14484T > C, m.3460G > A mutations was similar to 1:45,000 (2.23x10(-5); 95% confidence interval [CI] 2.01-2.44x10(-5)). Patients with LHON carrying either the m.11778G > A or the m.3460G > A mutation have a more severe clinical presentation and a much lower chance of spontaneous recovery from vision loss compared to patients with the m.14484T > C mutation. The estimated prevalence for patients with LHON in Europe carrying either of these severe mutations (m.11778G > A or m.3460G > A) was similar to 1:65,000 (1.54x10(-5); 95% CI 1.33-1.74x10(-5)). CONCLUSIONS. Although this meta-analysis summarizes the existing prevalence data for the primary, disease-causing mitochondrial DNA mutations of LHON in Europe, there is still a clear lack of reliable primary epidemiologic data for this devastating ophthalmologic disease.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据