Milea D, Verny C
Ophthalmologie, CHU d'Angers, 4, rue Larrey, 49000 Angers, France.
Rev Neurol (Paris). 2012 Oct;168(10):706-9. doi: 10.1016/j.neurol.2012.08.005. Epub 2012 Sep 16.
Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized.
遗传性视神经病变是一组影响双侧视神经的异质性疾病，具有常染色体显性、常染色体隐性、X连锁或线粒体遗传方式。两种最常见的非综合征性遗传性视神经病变（Leber遗传性视神经病变和常染色体显性遗传性视神经萎缩）在临床表现和遗传传递方面有很大差异，但都会导致常见的、非特异性的视神经萎缩。除了与视神经萎缩相关的视力丧失（这是这组疾病的临床特征）外，其他相关的神经系统体征也越来越受到认可。
