Objective To investigate the results from genetic detecting in Leber's hereditary optic neuropathy ( Leber's disease) and optic neuropathy of unknown reason, and to assess the clinical values of this detection. 目的了解Leber遗传性视神经病变(简称Leber病)及病因不明的视神经疾病基因检测结果,探讨该项检查的临床意义。
Leber's hereditary optic neuropathy ( LHON), a common blinding disease, is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA. Leber遗传性视神经病是由于线粒体基因突变导致的母系遗传性常见致盲眼疾。
Objective: To evaluate the effect of mitochondrial DNA 11778 site mutation on Leber's disease and its clinical feature. 目的为了探讨人线粒体mt-DNA11778位点突变对Leber氏病的发病影响及其临床特点。
Results and analysis for genetic detecting in Leber's disease and optic neuropathy of unknown reason Leber病及病因不明的视神经疾病基因检测结果分析