Van Bergen Nicole J, Chakrabarti Rahul, O'Neill Evelyn C, Crowston Jonathan G, Trounce Ian A
Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Victoria, Australia.
Eye Brain. 2011 Sep 26;3:29-47. doi: 10.2147/EB.S16192. eCollection 2011.
The clinical significance of disturbed mitochondrial function in the eye has emerged since mitochondrial DNA (mtDNA) mutation was described in Leber's hereditary optic neuropathy. The spectrum of mitochondrial dysfunction has become apparent through increased understanding of the contribution of nuclear and somatic mtDNA mutations to mitochondrial dynamics and function. Common ophthalmic manifestations of mitochondrial dysfunction include optic atrophy, pigmentary retinopathy, and ophthalmoplegia. The majority of patients with ocular manifestations of mitochondrial disease also have variable central and peripheral nervous system involvement. Mitochondrial dysfunction has recently been associated with age-related retinal disease including macular degeneration and glaucoma. Therefore, therapeutic targets directed at promoting mitochondrial biogenesis and function offer a potential to both preserve retinal function and attenuate neurodegenerative processes.
自从在Leber遗传性视神经病变中发现线粒体DNA（mtDNA）突变以来，眼部线粒体功能紊乱的临床意义已逐渐显现。随着对核基因和体细胞mtDNA突变在线粒体动力学及功能中所起作用的深入了解，线粒体功能障碍的范围已变得清晰可见。线粒体功能障碍常见的眼部表现包括视神经萎缩、色素性视网膜病变和眼肌麻痹。大多数患有线粒体疾病眼部表现的患者也有不同程度的中枢和周围神经系统受累。线粒体功能障碍最近还与年龄相关性视网膜疾病有关，包括黄斑变性和青光眼。因此，旨在促进线粒体生物合成和功能的治疗靶点有可能既能保留视网膜功能，又能减轻神经退行性病变过程。
