Martin-Kleiner Irena, Gabrilovac Jelka, Bradvica Mario, Vidović Tomislav, Cerovski Branimir, Fumić Ksenija, Boranić Milivoj
Division of Molecular Medicine, Institute "Ruder Bosković", Zagreb, Croatia.
Coll Antropol. 2006 Mar;30(1):171-4.
Leber's hereditary optic neuroretinopathy (LHON) is manifested as a bilateral acute or subacute loss of central vision due to optic atrophy. It is linked to point mutations of mitochondrial DNA, which is inherited maternally. The most common mitochondrial DNA point mutations associated with LHON are G3460A, G11778A and T14484C. These mutations are linked with the defects of subunits of the complex I (NADH-dehydrogenase-ubiquinone reductase) in mitochondria. The G11778A mitochondrial DNA point mutation is manifested by a severe visual impairment. In this paper two Croatian families with the LHON G11778A mutation are presented. Three LHON patients from two families were younger males which had the visual acuity of 0.1 or below, the ophthalmoscopy revealed telangiectatic microangiopathy and papilloedema, while Goldmann kinetic perimetry showed a central scotoma. The mothers and female relatives were LHON mutants without symptoms, whereas their sons suffered from a severe visual impairment. Molecular diagnosis helps to explain the cause of LHON disease.
莱伯遗传性视神经视网膜病变（LHON）表现为由于视神经萎缩导致的双侧急性或亚急性中心视力丧失。它与线粒体DNA的点突变有关，线粒体DNA通过母系遗传。与LHON相关的最常见线粒体DNA点突变是G3460A、G11778A和T14484C。这些突变与线粒体中复合物I（NADH-脱氢酶-泛醌还原酶）亚基的缺陷有关。G11778A线粒体DNA点突变表现为严重视力损害。本文介绍了两个携带LHON G11778A突变的克罗地亚家庭。来自两个家庭的三名LHON患者均为年轻男性，视力为0.1或更低，眼底镜检查显示毛细血管扩张性微血管病和视乳头水肿，而戈德曼动态视野检查显示中心暗点。母亲和女性亲属为无症状的LHON突变体，而她们的儿子患有严重视力损害。分子诊断有助于解释LHON疾病的病因。
