Esmaeil Ali, Ali Ali, Behbehani Raed
Neuro-Ophthalmology Service, Department of Ophthalmology, Ibn Sina Hospital, Kuwait City, Kuwait.
Front Ophthalmol (Lausanne). 2023 Jan 11;2:1077395. doi: 10.3389/fopht.2022.1077395. eCollection 2022.
Leber's hereditary optic neuropathy (LHON) is a fairly prevalent mitochondrial disorder (1:50,000) arising from the dysfunction of the mitochondrial respiratory chain, which eventually leads to apoptosis of retinal ganglion cells. The usual presentation is that of a young male with a sequential reduction in visual acuity. OCT has been used to study the pattern of optic nerve involvement in LHON, showing early thickening of the inferior and superior retinal nerve fibre layer and ganglion cell layer thinning corresponding with the onset of symptoms. Of the three primary mutations for LHON, the m.14484T>C mutation has the best visual prognosis. Recent emerging therapeutic options for LHON include idebenone and the introduction of genetic vector therapy, which is currently in phase III clinical trials. Screening of family members and adequate advice to avoid environmental triggers, such as smoking and alcohol consumption, are also cornerstones in the management of LHON.
莱伯遗传性视神经病变（LHON）是一种相当常见的线粒体疾病（发病率为1:50,000），由线粒体呼吸链功能障碍引起，最终导致视网膜神经节细胞凋亡。常见表现为年轻男性视力逐渐下降。光学相干断层扫描（OCT）已被用于研究LHON患者视神经受累模式，结果显示视网膜神经纤维层上下方早期增厚，且神经节细胞层变薄与症状发作相对应。在LHON的三种主要突变中，m.14484T>C突变的视觉预后最佳。LHON最近出现的治疗选择包括艾地苯醌以及基因载体疗法的引入，目前基因载体疗法正处于III期临床试验阶段。对家庭成员进行筛查并给予适当建议以避免环境诱因，如吸烟和饮酒，也是LHON管理的基石。
