Pantaleoni C, D'Arrigo S, Bagnasco I, Piozzi E, Carrara F, Scaioli V, Riva D
Department of Pediatric Neurology, Istituto Neurologico C. Besta, Via Celoria 11, 20133 Milan, Italy.
Brain Dev. 2001 Mar;23(2):125-7. doi: 10.1016/s0387-7604(01)00185-1.
Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.
Leber遗传性视神经病变是一种由线粒体（mt）DNA点突变导致的母系遗传疾病。在本报告中，我们描述了一例具有典型临床症状但眼底镜表现不典型的Leber病病例。一名14岁男孩左眼出现严重视力丧失，仅部分恢复，4个月后右眼出现相同症状。眼底镜检查显示右眼视乳头充血，左眼视盘苍白。淋巴细胞mt-DNA的聚合酶链反应分析显示11778位点存在点突变。对于突然视力丧失且眼底镜检查仅见视乳头受累而无典型毛细血管扩张性微血管病变的年轻患者（并非总是男性），应考虑Leber病。
