背景:多发性硬化相关的视神经炎大多与良好的恢复有关。这项研究的目的是调查多发性硬化症患者尽管接受了治疗,但视力逐渐恶化的原因。
方法:我们回顾性回顾了2001年至2020年间神经内科病房收治的多发性硬化伴视神经炎患者的病历。对单侧/双侧进行性视力丧失或视力非实质性恢复的患者进行Leber遗传性视神经病变的基因检测。
结果:在1014例多发性硬化症患者中,411(39%)报告有视神经炎。随访期间,11例患者表现出多发性硬化相关视神经炎的非典型特征(存在以下临床发现之一:双侧同时或序贯眼部受累,渐进性视力丧失,或住院期间对皮质类固醇无反应),而其他人则表现为典型的多发性硬化相关的视神经炎。那些具有非典型视神经炎特征的多发性硬化症患者被筛查为视神经病变的其他可能病因。在我们的研究组中,我们在5例多发性硬化症患者中发现了致病性线粒体突变。
结论:在我们的研究组中,在所有多发性硬化伴视神经炎患者中,线粒体突变的患病率为0.12%.我们强烈建议在MS患者中调查Leber的遗传性视神经病变突变,如果他们在随访期间出现严重或双侧视力丧失而没有恢复。因为Leber的遗传性视神经病变线粒体突变表明视力预后相对较差,对遗传咨询具有重要意义。
BACKGROUND: Multiple sclerosis-related optic neuritis is mostly associated with good recovery. The aim of this study was to investigate the causes of progressive visual worsening in multiple sclerosis patients despite treatment.
METHODS: We retrospectively reviewed the medical records of multiple sclerosis patients with optic neuritis admitted to the ward of our Neurology Department between 2001 and 2020. The patients with unilateral/bilateral progressive visual loss or non-substantial recovery of visual acuity were screened for genetic testing for Leber\'s hereditary optic neuropathy.
RESULTS: Of 1014 multiple sclerosis patients, 411 (39%) reported having optic neuritis. During follow-up, 11 patients manifested atypical characteristics of multiple sclerosis-related optic neuritis (presence of one of the following clinical findings: bilateral simultaneous or sequential eye involvement, progressive visual loss, or no response to corticosteroids during hospitalization), while others presented with typical multiple sclerosis-related optic neuritis. Those multiple sclerosis patients with atypical characteristics of optic neuritis were screened for other possible etiologies of optic neuropathy. We found pathogenic mitochondrial mutations in 5 patients with multiple sclerosis in our study group.
CONCLUSIONS: In our study group, the prevalence of mitochondrial mutations among all multiple sclerosis patients with optic neuritis was 0.12%. We strongly recommend investigating Leber\'s hereditary optic neuropathy mutations in MS patients if they suffer from severe or bilateral visual loss without recovery during follow-up. Because Leber\'s hereditary optic neuropathy mitochondrial mutations indicate relatively poor visual prognosis and have important implications for genetic counseling.