Abstract：
Leber\'s Hereditary Optic Neuropathy (LHON) is the most common primary mitochondrial DNA disorder. It is characterized by bilateral severe central subacute vision loss due to specific loss of Retinal Ganglion Cells and their axons. Historically, treatment options have been quite limited, but ongoing clinical trials show promise, with significant advances being made in the testing of free radical scavengers and gene therapy. In this review, we summarize management strategies and rational of treatment based on current insights from molecular research. This includes preventative recommendations for unaffected genetic carriers, current medical and supportive treatments for those affected, and emerging evidence for future potential therapeutics.
摘要：
Leber遗传性视神经病变（LHON）是最常见的原发性线粒体DNA疾病。它的特征是由于视网膜神经节细胞及其轴突的特异性丧失而导致的双侧严重的中枢亚急性视力丧失。历史上,治疗选择相当有限，但是正在进行的临床试验显示出希望，在测试自由基清除剂和基因治疗方面取得了重大进展。在这次审查中,我们根据分子研究的最新见解总结了管理策略和治疗的合理性。这包括针对未受影响的遗传携带者的预防性建议，目前对受影响者的医疗和支持治疗，以及未来潜在疗法的新证据。
