THE CLINICAL CHARACTERISTICS OF PEDIGREES OF LEBERS HEREDITARY OPTIC NEUROPATHY WITH THE 11778 MUTATION
THE CLINICAL CHARACTERISTICS OF PEDIGREES OF LEBERS HEREDITARY OPTIC NEUROPATHY WITH THE 11778 MUTATION
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DOI：
10.1016/s0002-9394(14)76784-4
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发表时间：
1991-06-15
影响因子：
4.2
通讯作者：
WALLACE, DC
中科院分区：
文献类型：
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作者：
NEWMAN, NJ;LOTT, MT;WALLACE, DC
在对11778位线粒体DNA突变阳性的Leber遗传性视神经病变家系表型特征的研究中，49个家系中有28个为单例病例。7个家庭，包括6个单胎家系，其母亲家庭成员线粒体DNA突变和正常（异质性）的混合物。来自43个家庭的72例患者，男性占81.9%(59/72)，发病年龄在8 ~ 60岁之间。两眼发病间隔平均为1.8个月；每只眼视力丧失的进展时间平均为3.7个月。109只眼中有107只（98.2%）视力低于20/200。52例患者中有30例出现微血管扩张病、椎间盘假性水肿或血管弯曲，这是典型的Leber遗传性视神经病变的检检特征。视觉诱发反应通常不存在或异常。心电图、荧光素血管造影、脑脊液分析、脑计算机断层扫描和磁共振成像通常正常。没有一致的神经系统或全身性疾病与这些利伯家系有关。在许多病例中，由于缺乏相容的家族史、典型的临床表现或检眼镜外观，诊断不会被怀疑。遗传分析显示11778位线粒体DNA突变，从而确定了Leber遗传性视神经病变的诊断，并对该疾病的临床特征有了更广泛的认识。
In a study of the phenotypic characteristics of pedigrees of Leber's hereditary optic neuropathy positive for the mitochondrial DNA mutation at position 11778, 28 of 49 pedigrees were represented by singleton cases. Seven families, including six singleton pedigrees, had maternal family members with a mixture of mutant and normal mitochondrial DNA (heteroplasmy). Seventy-two affected individuals from 43 families showed a male predominance of 81.9% (59/72) and ages of onset of visual loss ranging from 8 to 60 years. The time interval between affected eyes averaged 1.8 months; the duration of progression of visual loss in each eye averaged 3.7 months. Visual acuity was 20/200 or worse in 107 of 109 (98.2%) eyes. Telangiectatic microangiopathy, disk pseudoedema, or vascular tortuosity, ophthalmoscopic features believed to be classic of Leber's hereditary optic neuropathy, were noted in 30 of 52 patients. Visual-evoked responses were typically absent or abnormal. Electrocardiograms, fluorescein angiograms, cerebrospinal fluid analyses, brain computed tomography, and magnetic resonance imaging were usually normal. There were no consistent neurologic or systemic illnesses associated with these Leber's pedigrees. In many cases, the diagnosis would not have been suspected because of the absence of a compatible family history, typical clinical profile, or ophthalmoscopic appearance. Genetic analysis showed the mitochondrial DNA mutation at position 11778, which established the diagnosis of Leber's hereditary optic neuropathy and has allowed for a broader view of the clinical features of this disease.