Service d'ophtalmologie, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.
UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Département de biochimie et génétique, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.
Rev Neurol (Paris). 2014 May;170(5):344-54. doi: 10.1016/j.neurol.2014.03.009. Epub 2014 May 3.
Mitochondrial dysfunction leads to cellular energetic impairment, which may affect the visual pathways, from the retina to retrochiasmal structures. The most common mitochondrial optic neuropathies include Leber's hereditary optic neuropathy and autosomal dominant optic atrophy, but the optic nerve can be affected in other syndromic conditions, such as Wolfram syndrome and Friedreich's ataxia. These disorders may result from mutations in either the mitochondrial DNA or in the nuclear genes encoding mitochondrial proteins. Despite the inconstant genotype-phenotype correlations, a clinical classification of mitochondrial disorders may be made on the basis of distinct neuro-ophthalmic presentations such as optic neuropathy, pigmentary retinopathy and retrochiasmal visual loss. Although no curative treatments are available at present, recent advances throw new light on the pathophysiology of mitochondrial disorders. Current research raises hopes for novel treatment of hereditary optic neuropathies, particularly through the use of new drugs and mitochondrial gene therapy.
线粒体功能障碍导致细胞能量损伤，可能影响从视网膜到视交叉后结构的视觉通路。最常见的线粒体视神经病变包括莱伯遗传性视神经病变和常染色体显性视神经萎缩，但视神经也可能受到其他综合征的影响，如沃勒姆综合征和弗里德里希共济失调。这些疾病可能是由于线粒体 DNA 或编码线粒体蛋白的核基因突变引起的。尽管基因型-表型相关性不一致，但可以根据不同的神经眼科表现，如视神经病变、色素性视网膜炎和视交叉后视力丧失，对线粒体疾病进行临床分类。尽管目前尚无有效的治疗方法，但最近的进展为线粒体疾病的病理生理学提供了新的认识。目前的研究为遗传性视神经病变的新治疗方法带来了希望，特别是通过使用新药和线粒体基因治疗。
