线粒体性视神经病变临床特征及治疗研究进展

Clinical characteristics and research progress on the treatment of mitochondrial optic neuropathy

线粒体性视神经病变(MON)是因线粒体功能障碍导致视网膜神经节细胞损伤从而引发视神经功能异常的一组疾病。MON的病因可为遗传性,如Leber遗传性视神经病变和显性视神经萎缩;也可为后天获得性,如药物中毒,或者由先天性和获得性共同作用所致。这些不同病因的MON可表现出相似的临床表现,如双眼一致性和对称性发病,中心视力下降,瞳孔对光反射可相对保留等。多种新兴治疗方法如药物治疗、基因治疗、干细胞移植正在被广泛研究,以期限制或逆转视网膜神经节细胞的损伤。本文回顾了MON的发病机制、临床表现、辅助检查、鉴别诊断以及治疗的进展。

Mitochondrial optic neuropathy(MON)describes a group of optic neuropathies that exhibit mitochondrial dysfunction in retinal ganglion cells.Pathogenesis of MON includes genetic factors,such as Leber hereditary optic neuropathy and dominant optic atrophy,or acquired factors,such as drug intoxication and nutritional deficiencies,or the combination of both genetic factors and acquired factors.Regardless of different causes,MON shares similar features including bilateral central visual acuity loss,equally normal or slightly sluggish reaction of pupils to light and so on.Many novel therapies,such as pharmacological strategies,genetic therapy and stem cell therapy,are being widely studied in order to limit or reverse the damage of retinal ganglion cells.This article review the pathogenesis,clinical manifestations,ancillary testing,differential diagnosis and treatment progress of MON.