Mojon D
Abteilung für Schielbehandlung und Neuroophthalmologie, Augenklinik, Kantonsspital St. Gallen.
Ther Umsch. 2001 Jan;58(1):49-55. doi: 10.1024/0040-5930.58.1.49.
Mitochondria are the principal site of generation of energy in form of adenosine triphosphate (ATP). They contain the enzymes of the Krebs and fatty acid cycles and the respiratory pathway. Ocular tissues with high energy consumption and dependence on oxidative energy production like the optic nerve, the retina, and the pigment epithelium are often involved in mitochondrial diseases. This article reviews the genetic mitochondrial diseases involving the visual system. Their most important ocular findings include: acute or slowly progressive bilateral visual loss and visual field loss due to an optic neuropathy or retinal degeneration, bilateral progressive decreased ocular motility, and bilateral upper lid ptosis. The following diseases are discussed: Leber's Hereditary Optic Neuropathy (LHON); Kearns-Sayre Syndrom (KSS); Chronic Progressive External Ophthalmoplegia (CPEO); Autosomal Recessive Cardiomyopathy, Ophthalmoplegia (ARCO); Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS); Neuropathy, Ataxia, Retinitis Pigmentosa (NARP); Mitochondrial Neuropathy, Gastro-Intestinal Encephalomyopathy (MNGIE); Myoclonus Epilepsy, Ragged-Red-Fibers (MERRF); Wilson's disease; Friedreich's ataxia. Diagnosis of mitochondrial encephalomyopathies is established by screening for mutations in blood or muscle biopsy samples. No specific therapies which influence the course of mitochondrial encephalomyopathies are known. Drugs interacting with the mitochondria function, alcohol consumption and smoking should be avoided.
线粒体是以三磷酸腺苷（ATP）形式产生能量的主要场所。它们含有三羧酸循环和脂肪酸循环的酶以及呼吸途径的酶。像视神经、视网膜和色素上皮等能量消耗高且依赖氧化能量产生的眼部组织常受累于线粒体疾病。本文综述了累及视觉系统的遗传性线粒体疾病。其最重要的眼部表现包括：由于视神经病变或视网膜变性导致的急性或缓慢进展性双侧视力丧失和视野缺损、双侧进行性眼球运动减少以及双侧上睑下垂。讨论了以下疾病：Leber遗传性视神经病变（LHON）；Kearns-Sayre综合征（KSS）；慢性进行性外眼肌麻痹（CPEO）；常染色体隐性遗传性心肌病、眼肌麻痹（ARCO）；线粒体脑肌病、乳酸酸中毒、卒中样发作（MELAS）；神经病、共济失调、色素性视网膜炎（NARP）；线粒体神经病、胃肠脑肌病（MNGIE）；肌阵挛性癫痫、破碎红纤维（MERRF）；威尔逊病；弗里德赖希共济失调。线粒体脑肌病的诊断通过筛查血液或肌肉活检样本中的突变来确立。目前尚无已知的能影响线粒体脑肌病病程的特异性治疗方法。应避免使用与线粒体功能相互作用的药物、饮酒和吸烟。
