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标题：Leber’s Hereditary Optic Neuroretinopathy (LHON) Associated with Mitochondrial DNA Point Mutation G11778A in Two Croatian Families
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作者：Martin-Kleiner, Irena ; Gabrilovac, Jelka ; Bradvica, Mario 等
期刊名称：Collegium Antropologicum
印刷版ISSN：0350-6134
出版年度：2006
卷号：30
期号：1
页码：171-174
出版社：Hrvatsko antropološko društvo
摘要：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.
关键词：LHON; visual impairment; mitochondrial DNA; G11778A point mutation