[伴有G3460A突变的Leber遗传性视神经病变（LHON）及类多发性硬化症表型]

[Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype].

作者信息

Jamrozik Zygmunt, Tutaj Andrzej, Piechowski-Jóźwiak Bartłomiej, Mroczek-Tońska Katarzyna, Bartnik Ewa, Kwieciński Hubert

机构信息

Katedra i Klinika Neurologii Akademii Medycznej w Warszawie Samodzielny Publiczny Centralny Szpital Kliniczny ul. Banacha 1a, 02-097 Warszawa.

出版信息

Neurol Neurochir Pol. 2003 May-Jun;37(3):713-20.

PMID:14593764

Abstract

A sporadic case of a 31 year-old woman with genetically confirmed diagnosis of LHON was presented. Both her optic nerves were affected, with a 5-year interval between the onset in one eye and the loss of vision in the second one. Besides optic atrophy clinical and laboratory signs of multiple sclerosis were found. A review of the literature suggests that the G3460A mutation present in this case rarely coexists with a MS-like clinical phenotype.

摘要

报告了一例31岁女性散发性病例，经基因检测确诊为Leber遗传性视神经病变（LHON）。她的双侧视神经均受影响，一只眼睛发病与另一只眼睛失明之间间隔5年。除视神经萎缩外，还发现了多发性硬化的临床和实验室体征。文献综述表明，该病例中存在的G3460A突变很少与类似多发性硬化的临床表型共存。