Kamata Y, Mashima Y, Yokoyama M, Tanaka K, Goto Y, Oguchi Y
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
J Neuroophthalmol. 1998 Dec;18(4):284-8.
A 33-year-old Japanese man had Kearns-Sayre syndrome (KSS), which consists of the triad of external ophthalmoplegia, heart block, and "salt-and-pepper" retinopathy. The other systemic manifestations included sensorineural hearing loss, slight generalized muscle weakness, cerebellar ataxia, and elevated levels of cerebrospinal fluid protein. He exhibited a heteroplasmic mitochondrial DNA deletion of approximately 9 kb between the cytochrome c oxidase subunit 1 and cytochrome b genes. In the authors' experience, this deletion is one of the longest to be observed in such patients. His fundi were characterized bilaterally by white flecks in the inner layers of retina at the midperiphery. Visual evoked potentials showed delayed latency in the P100 component. The tibial somatosensory evoked potential revealed a marked prolongation of interpeak latency between the N20 and P40 components. Brain magnetic resonance images revealed high-intensity foci in several regions on T2-weighted images. Electrophysiological and magnetic resonance imaging findings suggested an involvement of the white matter of the central nervous system in this patient that was not reflected in the clinical findings.
一名33岁的日本男性患有凯-塞尔综合征（KSS），该综合征由眼外肌麻痹、心脏传导阻滞和“椒盐样”视网膜病变三联征组成。其他全身表现包括感音神经性听力损失、轻度全身性肌肉无力、小脑共济失调以及脑脊液蛋白水平升高。他在细胞色素c氧化酶亚基1和细胞色素b基因之间存在约9 kb的异质性线粒体DNA缺失。根据作者的经验，这种缺失是在这类患者中观察到的最长的缺失之一。他的眼底特征是双侧中周部视网膜内层有白色斑点。视觉诱发电位显示P100成分潜伏期延迟。胫神经体感诱发电位显示N20和P40成分之间的峰间期明显延长。脑磁共振图像在T2加权图像上的几个区域显示高强度病灶。电生理和磁共振成像结果提示该患者中枢神经系统白质受累，而这在临床检查中未得到体现。
