St Vincent's Hospital Melbourne Mitochondrial and Autoimmune Neurological Disorders Laboratory, Department of Clinical Neurosciences and Neurological Research, 5th Floor Daly Wing, St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia.
St Vincent's Hospital Melbourne Mitochondrial and Autoimmune Neurological Disorders Laboratory, Department of Clinical Neurosciences and Neurological Research, 5th Floor Daly Wing, St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia.
Mitochondrion. 2020 Sep;54:128-132. doi: 10.1016/j.mito.2020.08.007. Epub 2020 Aug 28.
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.
Leber 遗传性视神经病变（LHON）是一种神经退行性疾病，其特征是双侧、无痛、亚急性、中央视力丧失，由线粒体 DNA（mtDNA）中的致病性序列变异引起。在 20 年的时间里，我们的诊断实验室系统地对 734 人进行了筛查，怀疑患有 LHON 或有患 LHON 的风险，其中 98 人携带三种主要致病性 mtDNA 变异体之一。检测发生率为：NC_012920.1(MT-ND1):m.3460G>A 为 0.95%；(MT-ND4):m.11778G>A 为 9.4%；(MT-ND6):m.14484T>C 为 2.9%。有症状的男性中位年龄为 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）。大多数致病性变异携带者是先证者，其他个体属于 14 个具有显著家族内疾病严重程度变异性的家系之一。
