Morrissey S P, Borruat F X, Miller D H, Moseley I F, Sweeney M G, Govan G G, Kelly M A, Francis D A, Harding A E, McDonald W I
Institute of Neurology, London, UK.
J Neurol Neurosurg Psychiatry. 1995 Jan;58(1):70-4. doi: 10.1136/jnnp.58.1.70.
To elucidate the cause(s) of acute or subacute bilateral simultaneous optic neuropathy (BSON) in adult life, a follow up study of 23 patients was performed with clinical assessment, brain MRI, HLA typing, and mitochondrial DNA analysis. The results of CSF electrophoresis were available from previous investigations in 11 patients. At follow up, five (22%) had developed clinically definite multiple sclerosis, four (17%) had mitochondrial DNA point mutations indicating a diagnosis of Leber's hereditary optic neuropathy (LHON). The remaining 14 patients (61%) still had clinically isolated BSON a mean of 50 months after the onset of visual symptoms: three of 14 (21%) had multiple MRI white matter lesions compatible with multiple sclerosis, three of 14 (21%) had the multiple sclerosis associated HLA-DR15/DQw6 haplotype, and one of seven tested had CSF oligoclonal IgG bands; in total only five (36%) had one or more of these risk factors. The low frequency of risk factors for the development of multiple sclerosis in these 14 patients suggests that few will develop multiple sclerosis with more prolonged follow up. It is concluded that: (a) about 20% of cases of BSON without affected relatives are due to LHON; (b) multiple sclerosis develops after BSON in at least 20% of cases, but the long term conversion rate is likely to be considerably less than the rate of over 70% seen after an episode of acute unilateral optic neuritis in adult life.
为阐明成人急性或亚急性双侧同时性视神经病变（BSON）的病因，对23例患者进行了随访研究，包括临床评估、脑部磁共振成像（MRI）、人类白细胞抗原（HLA）分型及线粒体DNA分析。11例患者的脑脊液电泳结果来自既往研究。随访时，5例（22%）发展为临床确诊的多发性硬化，4例（17%）有线粒体DNA点突变，提示诊断为Leber遗传性视神经病变（LHON）。其余14例患者（61%）在视觉症状出现后平均50个月仍有临床孤立性BSON：14例中有3例（21%）有与多发性硬化相符的MRI白质病变，14例中有3例（21%）有多发性硬化相关的HLA-DR15/DQw6单倍型，7例检测者中有1例有脑脊液寡克隆IgG带；总共只有5例（36%）有这些危险因素中的一种或多种。这14例患者中多发性硬化发生风险因素的低频率表明，随着随访时间延长，很少有人会发展为多发性硬化。结论如下：（a）约20%无亲属患病的BSON病例由LHON引起；（b）至少20%的病例在BSON后会发生多发性硬化，但长期转化率可能远低于成人急性单侧视神经炎发作后超过70%的转化率。
