Vanopdenbosch L, Dubois B, D'Hooghe M B, Meire F, Carton H
Department of Neurology, University of Leuven, Belgium.
J Neurol. 2000 Jul;247(7):535-43. doi: 10.1007/s004150070153.
Multiple sclerosis (MS) and Leber's hereditary optic neuropathy (LHON) have been found to occur in combination. Based on an extensive literature search and on a clinical analysis of 55 LHON pedigrees (103 patients) and 40 patients with definite MS, this study concludes that the association of LHON and MS is more than a coincidence, and that carrying a primary LHON mutation is a risk factor for developing MS. All three primary LHON mutations occurring in the European and North American populations have been found to be associated with an MS-like syndrome. The neurological characteristics of MS associated with LHON are indistinguishable from those of MS in general, but the severe and bilateral visual symptoms and signs justify considering these patients as a clinical subgroup of MS and screening them for LHON mutations. However, screening LHON patients for MS appears to be more rewarding.
已发现多发性硬化症（MS）与莱伯遗传性视神经病变（LHON）可合并发生。基于广泛的文献检索以及对55个LHON家系（103例患者）和40例确诊MS患者的临床分析，本研究得出结论：LHON与MS的关联并非偶然，携带原发性LHON突变是发生MS的危险因素。在欧洲和北美人群中出现的所有三种原发性LHON突变均已被发现与一种类似MS的综合征相关。与LHON相关的MS的神经学特征与一般MS的特征并无区别，但严重的双侧视觉症状和体征使得将这些患者视为MS的一个临床亚组并对其进行LHON突变筛查成为合理做法。然而，对LHON患者进行MS筛查似乎更有价值。
