Kim's Eye Hospital, Seoul, South Korea.
Department of Ophthalmology, Konyang University College of Medicine, Daejeon, South Korea.
Asia Pac J Ophthalmol (Phila). 2018 Jul-Aug;7(4):242-245. doi: 10.22608/APO.2018293. Epub 2018 Jul 15.
Leber hereditary optic neuropathy (LHON) is an important cause of mitochondrial blindness. The majority of patients harbor one of three mitochondrial DNA (mtDNA) point mutations, m.3460G>A, m.11778G>A, and m.14484T>C, which all affect complex I subunits of the mitochondrial respiratory chain. The loss of retinal ganglion cells in LHON is thought to arise from a combination of impaired mitochondrial oxidative phosphorylation resulting in decreased adenosine triphosphate (ATP) production and increased levels of reactive oxygen species. Treatment options for LHON remain limited, but major advances in mitochondrial neuroprotection, gene therapy, and the prevention of transmission of pathogenic mtDNA mutations will hopefully translate into tangible benefits for patients affected by this condition and their families.
Leber 遗传性视神经病变（LHON）是线粒体失明的一个重要原因。大多数患者携带三种线粒体 DNA（mtDNA）点突变之一，m.3460G>A、m.11778G>A 和 m.14484T>C，这些突变均影响线粒体呼吸链的复合物 I 亚基。LHON 中视网膜神经节细胞的丧失被认为源于线粒体氧化磷酸化受损，导致三磷酸腺苷（ATP）生成减少和活性氧水平增加。LHON 的治疗选择仍然有限，但线粒体神经保护、基因治疗和致病性 mtDNA 突变传播的预防方面的重大进展有望为受此疾病影响的患者及其家属带来切实的益处。
