Nakamura N, Furukawa Y, Fujiki K, Hayakawa M, Mizuno Y
Department of Neurology, Juntendo University, School of Medicine.
Rinsho Shinkeigaku. 1994 Mar;34(3):258-60.
We report a 55-year-old Japanese man who had an onset of bilateral progressive blurring of vision at age 54 years. His younger sister had diminished visual acuity since 14 years of age. On neurologic examination, bilateral optic atrophy was present. He could only count the digit numbers at 40 cm-distance with his right eye, and the visual acuity of the left eye was 0.08. Otherwise, neurologic examination was unremarkable. The PCR analysis of mitochondrial DNA prepared from whole blood revealed a G to A mutation at the nucleotide 11,778; the so-called Wallace's mutation. He was diagnosed as Leber's hereditary optic neuropathy. It is rare to see a patient with LHON with the onset after 50 years of age.
我们报告一名55岁的日本男性，他在54岁时开始出现双侧进行性视力模糊。他的妹妹自14岁起视力就有所下降。神经系统检查发现双侧视神经萎缩。他右眼在40厘米距离处只能数手指，左眼视力为0.08。除此之外，神经系统检查无异常。对全血制备的线粒体DNA进行PCR分析，发现核苷酸11778处有一个G到A的突变；即所谓的华莱士突变。他被诊断为Leber遗传性视神经病变。50岁以后发病的Leber遗传性视神经病变患者很少见。
