Guerriero Silvana, Vetrugno Michele, Ciracì Lorenza, Artuso Lucia, Dell'aglio Rosa, Petruzzella Vittoria
Department of Ophthalmology-Otolaringology, University of Bari, Bari, Italy.
Middle East Afr J Ophthalmol. 2011 Jan;18(1):67-70. doi: 10.4103/0974-9233.75892.
Leber's hereditary optic neuropathy (LHON) is a maternally inherited, monosymptomatic disorder, characterized by severe central vision loss and optic atrophy that most frequently affects young men. The classic LHON phenotype is associated to three mitochondrial DNA mutations, mostly homoplasmic, in the Mt-ND4, Mt-ND6, and Mt-ND1 genes, encoding for complex I subunits of the mitochondrial respiratory chain. Rare cases have been described in the literature in association with variable central nervous system involvement in a syndromic form called LHON 'plus.' In the present study, we report the case of a 16-year-old boy with the 3460/ND1 mutation who presented with epilepsy, migraine, and mental retardation as non-ophthalmic features. We also investigated his relatives who all had the 3460/ND1 mutation.
Leber遗传性视神经病变（LHON）是一种母系遗传的单症状性疾病，其特征为严重的中心视力丧失和视神经萎缩，最常影响年轻男性。经典的LHON表型与线粒体DNA的三个突变相关，这些突变大多为纯质性，位于Mt-ND4、Mt-ND6和Mt-ND1基因中，这些基因编码线粒体呼吸链的复合体I亚基。文献中曾描述过罕见病例，这些病例伴有称为LHON“plus”的综合征形式的可变中枢神经系统受累。在本研究中，我们报告了一名16岁男孩的病例，他携带3460/ND1突变，表现出癫痫、偏头痛和智力障碍等非眼科特征。我们还对他所有携带3460/ND1突变的亲属进行了调查。
