一例双侧假性视乳头水肿显示Leber遗传性视神经病变

Aachak M, Brarou H, B. H, Jeddou I, A. T, E. F, M. Y, Reda K, Oubaaz A
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摘要

Leber遗传性视神经病变(LHON)是一种由线粒体DNA突变引起的线粒体疾病,影响呼吸复合体I并导致视网膜神经节细胞(RGCs)死亡[1]。其特征是突然发作,通常严重的双侧中心视力丧失,主要发生在年轻男性[2]。在线粒体DNA中携带LHON原发突变的男性和女性中,视力丧失的风险分别为50%和10%[3]。我们报告了一个11岁女孩的非典型LHON病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Case of Bilateral Pseudo Papilledema Revealing a Leber’s Hereditary Optic Neuropathy
Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease caused by mutations in mitochondrial DNA affecting the respiratory complex I and leading to the death of retinal ganglion cells (RGCs) [1]. It is characterized by sudden onset and usually severe bilateral loss of central vision, predominantly in young men [2]. The risk of vision loss is 50% among men and 10% among women who carry LHON primary mutations in the mitochondrial DNA [3]. We report an atypic case of LHON in a young 11 years old girl.
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