Rasool Nailyn, Lessell Simmons, Cestari Dean M
a Neuro-Ophthalmology Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston , Massachusetts , USA.
Semin Ophthalmol. 2016;31(1-2):107-16. doi: 10.3109/08820538.2015.1115251.
Leber hereditary optic neuropathy (LHON) was the first clinically characterized mitochondrial disorder. Since its first description in 1871, much has been discovered regarding the genetics and pathophysiology of the disease. This has enabled the development of in vitro cell and animal models that can be used to try to determine not only the effects of the genetic mutation upon the clinical phenotype but to also test potential novel therapies. Treatments for LHON have ranged from vitamins and minerals to immunosuppressants and, more recently, targeted gene therapy. This article reviews the pathophysiology and clinical features of LHON with a focus on translational research.
Leber遗传性视神经病变（LHON）是首个有临床特征描述的线粒体疾病。自1871年首次被描述以来，人们对该疾病的遗传学和病理生理学有了诸多发现。这使得体外细胞和动物模型得以发展，这些模型不仅可用于确定基因突变对临床表型的影响，还能测试潜在的新型疗法。LHON的治疗方法从维生素和矿物质到免疫抑制剂，以及最近的靶向基因疗法，不一而足。本文回顾了LHON的病理生理学和临床特征，并重点关注转化研究。
