Hiida Y, Mashima Y, Oguchi Y, Uemura Y, Kudoh J, Sakai K, Shimizu N
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Jpn J Ophthalmol. 1991;35(1):102-6.
A mitochondrial DNA (mtDNA) mutation associated with Leber's hereditary optic neuropathy (LHON) was recently observed. The presence or absence of the mutation was analyzed in 10 Japanese patients whose clinical course and fundus findings were consistent with LHON. Four of them had at least one maternally related individual who also had bilateral optic atrophy, and were diagnosed as "definite LHON". The other 6 cases lacked any record of optic nerve disease in maternally related individuals, and were diagnosed as "possible LHON". We found the mutation at the SfaNI site of mtDNA in 3 out of the former 4 cases, and in 5 out of the latter 6 cases. This result demonstrates the clinical and diagnostic importance of mtDNA analysis, especially with possible cases of LHON, and suggests that an alternative mutation associated with LHON is also present in Japanese patients.
最近发现了一种与Leber遗传性视神经病变（LHON）相关的线粒体DNA（mtDNA）突变。对10例临床病程和眼底检查结果符合LHON的日本患者进行了该突变的检测。其中4例患者至少有一位母系亲属也患有双侧视神经萎缩，被诊断为“确诊LHON”。另外6例患者的母系亲属中没有视神经疾病的记录，被诊断为“可能LHON”。我们在前4例中的3例以及后6例中的5例中发现了mtDNA SfaNI位点的突变。这一结果证明了mtDNA分析在临床和诊断中的重要性，尤其是对于可能的LHON病例，并表明日本患者中也存在与LHON相关的另一种突变。
