卡恩斯-塞尔综合征的非典型色素性视网膜病变。光镜和电镜研究。

The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study.

作者信息

Eagle R C, Hedges T R, Yanoff M

出版信息

Ophthalmology. 1982 Dec;89(12):1433-40. doi: 10.1016/s0161-6420(82)34619-9.

Abstract

Two postmortem eyes from a 52-year-old man with Kearns-Sayre syndrome were examined by light, scanning, and transmission electron microscopy. Prior to death, pronounced ptosis, total external ophthalmoplegia, an episodic ventricular cardiac arrhythmia, and an atypical pigmentary retinopathy characterized by "choroidal sclerosis" and pigment clumping were documented. Histopathologic examination revealed atrophy of the retinal pigment epithelium and outer retina that was most marked posteriorly. The preservation of photoreceptors appeared to mirror the health of the underlying retinal pigment epithelium. Numerous healthy appearing rods were present in the relatively well-preserved temporal retina. The pattern of photoreceptor degeneration observed in this form of "atypical retinitis pigmentosa" suggests that the primary defect may reside in the retinal pigment epithelium.

摘要

对一名患有卡恩斯-塞尔综合征的52岁男性的两只死后眼睛进行了光镜、扫描电镜和透射电镜检查。在死亡前，记录到明显的上睑下垂、完全性眼外肌麻痹、阵发性室性心律失常以及以“脉络膜硬化”和色素团块为特征的非典型色素性视网膜病变。组织病理学检查显示视网膜色素上皮和外层视网膜萎缩，以后部最为明显。光感受器的保存情况似乎反映了其下方视网膜色素上皮的健康状况。在保存相对完好的颞侧视网膜中存在许多外观健康的视杆细胞。在这种“非典型色素性视网膜炎”形式中观察到的光感受器退化模式表明，主要缺陷可能存在于视网膜色素上皮。