Konrádová V, Zeman J, Stratilová L, Hermanská J, Vseticka I, Misovicová N, Kurca E, Gerinec A, Houstĕk J
Klinika dĕtského a dorostového lékarství 1. LF UK a VFN, Praha.
Cas Lek Cesk. 1999 Oct 20;138(18):565-8.
Leber's hereditary neuropathy of the optic nerve (LHON) is manifested by bilateral affection of the eyes with acute or subacute loss of vision. The disease is caused by point mutations in the mitochondrial DNA (mtDNA) and is one of the most frequent mitochondrial diseases in the population. In patients with LHON 18 different point mutations in the mtDNA were described which correlate partly with the rate of progression of the disease and the severity and prognosis of the final affection of vision.
The submitted paper deals with the results of molecular genetic examinations in three families with clinical manifestations of LHON. In three patients in the first family a homoplasmic mutation of mtDNA G3460A was found. In the second family in a young man with severely impaired vision a heteroplasmic mutation G3460A was found associated with a higher ratio of mutated mtDNA molecules than in his mother who is clinically healthy. In the third family the presence of homoplasmic mutation of mtDNA in position G11778A was detected.
The diagnosis of LHON and genetic counselling in affected families should be based on close collaboration of ophthalmological and genetic departments with specialized laboratories engaged in molecular biological diagnosis of mitochondrial diseases.
莱伯遗传性视神经病变（LHON）表现为双眼受累，视力急性或亚急性丧失。该疾病由线粒体DNA（mtDNA）的点突变引起，是人群中最常见的线粒体疾病之一。在LHON患者中，已描述了mtDNA中的18种不同点突变，这些突变部分与疾病的进展速度以及最终视力损害的严重程度和预后相关。
提交的论文涉及对三个有LHON临床表现的家庭进行分子遗传学检查的结果。在第一个家庭的三名患者中发现了mtDNA G3460A的纯质突变。在第二个家庭中，一名视力严重受损的年轻人中发现了异质突变G3460A，与他临床健康的母亲相比，其突变mtDNA分子的比例更高。在第三个家庭中，检测到mtDNA在G11778A位置存在纯质突变。
LHON的诊断以及对受影响家庭的遗传咨询应基于眼科和遗传科室与从事线粒体疾病分子生物学诊断的专业实验室密切合作。
