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Abstract：
Leber Hereditary Optic Neuropathy (LHON) stands as a distinctive maternally inherited mitochondrial disorder marked by painless, subacute central vision loss, primarily affecting young males. This review covers the possible relationship between LHON and multiple sclerosis (MS), covering genetic mutations, clinical presentations, imaging findings, and treatment options. LHON is associated with mutations in mitochondrial DNA (mtDNA), notably m.11778G>A, m.3460G>A, and m.14484T>C, affecting complex I subunits. Beyond ocular manifestations, LHON can go beyond the eye into a multi-systemic disorder, showcasing extraocular abnormalities. Clinical presentations, varying in gender prevalence and outcomes, underscore the nature of mitochondrial optic neuropathies. Hypotheses exploring the connection between LHON and MS encompass mitochondrial DNA mutations triggering neurological diseases, immunologically mediated responses inducing demyelination, and the possibility of coincidental diseases. The research on mtDNA mutations among MS patients sheds light on potential associations with specific clinical subgroups, offering a unique perspective into the broader landscape of MS. Imaging findings, ranging from white matter alterations to cerebrospinal fluid biomarkers, further emphasize shared pathological processes between LHON-MS and classical MS. This comprehensive review contributes to the understanding of the complex relationship between LHON and MS.
摘要：
Leber遗传性视神经病变（LHON）是一种独特的母体遗传性线粒体疾病，其特征是无痛，亚急性中心视力丧失,主要影响年轻男性。这篇综述涵盖了LHON与多发性硬化症（MS）之间的可能关系，涵盖基因突变，临床表现,影像学发现，和治疗选择。LHON与线粒体DNA（mtDNA）的突变有关，值得注意的是m.11778G>A，m.3460G>A,和m.14484T>C，影响复杂的I亚基。除了眼部表现，LHON可以超越眼睛进入多系统疾病，显示眼外异常。临床表现,性别患病率和结果各不相同，强调线粒体视神经病变的性质。探索LHON和MS之间联系的假设包括触发神经系统疾病的线粒体DNA突变，诱导脱髓鞘的免疫介导的反应，以及偶然疾病的可能性。对MS患者mtDNA突变的研究揭示了与特定临床亚组的潜在关联，为MS的更广阔景观提供独特的视角影像学发现,从白质改变到脑脊液生物标志物，进一步强调LHON-MS和经典MS之间的共同病理过程。这篇全面的综述有助于理解LHON和MS之间的复杂关系。
