Oostra R J, Tijmes N T, Cobben J M, Bolhuis P A, van Nesselrooij B P, Houtman W A, de Kok-Nazaruk M M, Bleeker-Wagemakers E M
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
Clin Genet. 1997 Jun;51(6):388-93. doi: 10.1111/j.1399-0004.1997.tb02496.x.
Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between the eyes becoming affected, course of the disease, concomitant disorders, additional test results, final visual acuity, and/or results of mtDNA analysis. Moreover, the pedigrees themselves did not suggest maternal inheritance. We analysed the diagnostic and clinical genetic difficulties related to the atypical aspects of these pedigrees. We conclude that mtDNA analysis is justified in every case of optic nerve atrophy with no clear cause. Identification of one of the three LHON specifically associated mtDNA mutations is essential to confirm the diagnosis.
Leber遗传性视神经病变（LHON）是一种母系遗传疾病，与线粒体DNA突变有关，其临床表现缺乏特异性，因而声名狼藉。本文描述了两个家系，其中的病例在性别、发病年龄、双眼发病间隔时间、病程、伴随疾病、其他检查结果、最终视力和/或线粒体DNA分析结果等方面都不符合LHON的典型表现。此外，这些家系本身也未显示出母系遗传的特征。我们分析了与这些家系非典型特征相关的诊断和临床遗传学难题。我们得出结论，对于每一例原因不明的视神经萎缩病例，进行线粒体DNA分析都是合理的。确定与LHON特异性相关的三种线粒体DNA突变之一对于确诊至关重要。
