Lock Jane H, Irani Neha K, Newman Nancy J
Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia.
Department of Ophthalmology, Sir Charles Gairdner Hospital, Perth, WA, Australia.
Taiwan J Ophthalmol. 2020 Dec 4;11(1):39-52. doi: 10.4103/tjo.tjo_68_20. eCollection 2021 Jan-Mar.
The visual system has high metabolic requirements and is therefore particularly vulnerable to mitochondrial dysfunction. The most commonly affected tissues include the extraocular muscles, photoreceptors, retinal pigment epithelium, optic nerve and visual cortex. Hence, the most common manifestations of mitochondrial disorders are progressive external ophthalmoplegia, macular pattern dystrophy, pigmentary retinopathy, optic neuropathy and retrochiasmal visual field loss. With the exception of Leber hereditary optic neuropathy and stroke-like episodes seen in mitochondrial encephalopathy, lactic acidosis and stroke-like episodes, the majority of neuro-ophthalmic manifestations have an insidious onset. As such, some patients may not recognize subtle progressive visual symptoms. When mitochondrial disorders are highly suspected, meticulous examination performed by an ophthalmologist with targeted ancillary testing can help confirm the diagnosis. Similarly, neuro-ophthalmic symptoms and signs may be the first indication of mitochondrial disease and should prompt systemic investigations for potentially life-threatening associations, such as cardiac conduction defects. Finally, the ophthalmologist can offer symptomatic treatments for some of the most disabling manifestations of these disorders.
视觉系统具有很高的代谢需求，因此特别容易受到线粒体功能障碍的影响。最常受影响的组织包括眼外肌、光感受器、视网膜色素上皮、视神经和视皮层。因此，线粒体疾病最常见的表现是进行性眼外肌麻痹、黄斑图案营养不良、色素性视网膜病变、视神经病变和视交叉后视野缺损。除了线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）中出现的Leber遗传性视神经病变和卒中样发作外，大多数神经眼科表现起病隐匿。因此，一些患者可能没有意识到细微的进行性视觉症状。当高度怀疑线粒体疾病时，由眼科医生进行细致检查并辅以针对性的辅助检查有助于确诊。同样，神经眼科症状和体征可能是线粒体疾病的首发表现，应促使进行全身检查以排查潜在的危及生命的关联疾病，如心脏传导缺陷。最后，眼科医生可以针对这些疾病中一些最致残的表现提供对症治疗。
