Optic Atrophy Differentially Diagnosed as Spinocerebellar Ataxia from Leber Hereditary Optic Neuropathy by Gene Mutation Analysis
Optic Atrophy Differentially Diagnosed as Spinocerebellar Ataxia from Leber Hereditary Optic Neuropathy by Gene Mutation Analysis
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基因突变分析鉴别视神经萎缩与莱伯遗传性视神经病的脊髓小脑共济失调
DOI：
10.1177/030006051204000543
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发表时间：
2012
影响因子：
1.6
通讯作者：
M. Yan
中科院分区：
文献类型：
--
作者：
Y. Song;ZS Chen;GY Mo;Q. Ding;L. Zhu;M. Yan
视神经萎缩描述了一组最终导致视力丧失的视网膜神经节细胞和轴突疾病。视神经萎缩有先天性和后天性的原因，其诊断（或鉴别诊断）是复杂的。本病例报告描述了一位20岁男性，双眼视力逐渐下降1年，无明显全身症状。眼底检查显示双侧视神经萎缩。根据临床表现、视野分析及图形视觉诱发电位检查，初步诊断为Leber遗传性视神经病变（LHON）。线粒体DNA分析表明，与LHON相关的所有三种常见突变（m.3460G>A，m.11778G>A，m.14484T>C）均不存在。详细询问病人，发现有语言发育迟缓和平衡能力差的病史。神经系统检查显示异常协调，这表明存在遗传性脊髓小脑共济失调（SCA）。SCA7基因的分析揭示了大量的三核苷酸重复序列[（CAG）n，n > 64]，证实了SCA的诊断。视神经萎缩的病因复杂，分子遗传学检测方法为诊断提供了最佳信息。
Optic atrophy describes a group of diseases of retinal ganglion cells and axons that eventually lead to loss of vision. Optic atrophy has both congenital and acquired causes, and its diagnosis (or differential diagnosis) is complicated. This case report describes a 20-year-old man who presented with a 1-year history of progressive vision loss in both eyes and no obvious systemic symptoms. Fundus examination revealed bilateral optic atrophy. Based on clinical characteristics, visual field analysis and pattern visual evoked potential examination, the presumptive diagnosis was Leber hereditary optic neuropathy (LHON). Analysis of mitochondrial DNA indicated the absence of all of three common mutations associated with LHON (m.3460G>A, m.11778G>A, m.14484T>C). Detailed questioning of the patient revealed a history of prolonged language development and poor balance. Neurological examination indicated abnormal co-ordination, suggesting the presence of inherited spinocerebellar ataxia (SCA). Analysis of the SCA7 gene revealed a high number of trinucleotide repeats [(CAG)n, n > 64], confirming the diagnosis of SCA. The aetiology of optic atrophies is complicated and the molecular genetic detection approach provides the best information for diagnosing these diseases.
DOI：
10.1016/0006-291x(92)90479-5
发表时间：
1992-09-30
影响因子：
3.1
作者：
JOHNS, DR;NEUFELD, MJ;PARK, RD
通讯作者：
PARK, RD
影响因子：
56.9
作者：
WALLACE, DC;SINGH, G;NIKOSKELAINEN, EK
通讯作者：
NIKOSKELAINEN, EK