PDF(Pubmed)
Abstract：
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.
摘要：
Leber的遗传性视神经病变（LHON）是一种相当普遍的线粒体疾病（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。通常的表现是年轻男性的视力连续下降。OCT已用于研究LHON的视神经受累模式，表现出与症状发作相对应的下，上视网膜神经纤维层和神经节细胞层的早期增厚。在LHON的三个主要突变中，m.14484T>C突变具有最好的视觉预后。LHON最近出现的治疗选择包括艾地苯醌和基因载体疗法的引入，目前正在进行III期临床试验。对家庭成员进行筛查，并提供适当的建议，以避免环境诱因，比如吸烟和饮酒，也是LHON管理的基石。
