Leber hereditary optic neuropathy (LHON) is a neurodegenerative disorder characterised by bilateral, painless, subacute, central vision loss caused by pathogenic sequence variants in mitochondrial DNA (mtDNA). Over the course of 20 years, 734 people were systematically screened by our diagnostic laboratory for suspected LHON or for being at risk of LHON, with 98 found to harbour one of the three primary pathogenic mtDNA variants. Detection incidences were: 0.95% for NC_012920.1(MT-ND1):m.3460G>A; 9.4% for (MT-ND4):m.11778G>A; and 2.9% for (MT-ND6):m.14484T>C. The median age for symptomatic males was 27.3 years and for females 29.5 years, with a male to female ratio of 4.4:1 (62 males; 14 females). Most pathogenic variant carriers were propositi with the other individuals belonging to one of 14 pedigrees with noteworthy intra-family variability of clinical severity of the disease.

中文翻译：

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与 Leber 遗传性视神经病变相关的原发性线粒体 DNA 变异的长期筛查：发病率、外显率和临床特征

Leber 遗传性视神经病变 (LHON) 是一种神经退行性疾病，其特征是由线粒体 DNA (mtDNA) 中的致病序列变异引起的双侧、无痛、亚急性、中央视力丧失。在 20 年的时间里，我们的诊断实验室对 734 人进行了系统性筛查，以确定疑似 LHON 或处于 LHON 风险中，其中 98 人被发现具有三种主要致病性 mtDNA 变异之一。检测发生率为：0.95% NC_012920.1(MT-ND1):m.3460G>A；(MT-ND4) 的 9.4%：m.11778G>A；(MT-ND6):m.14484T>C 为 2.9%。有症状男性的中位年龄为 27.3 岁，女性为 29.5 岁，男女比例为 4.4:1（62 名男性；14 名女性）。