Mayer W J, Remy M, Rudolph G
Augenklinik, Klinikum der Universität, Campus Innenstadt, München, Deutschland.
Ophthalmologe. 2011 May;108(5):459-62. doi: 10.1007/s00347-010-2296-3.
Kearns-Sayre syndrome is a rare mitochondrial disease which usually occurs sporadically with the presence of ptosis and the clinical triad of chronic progressive external ophthalmoplegia, atypical retinitis pigmentosa and cardiac conduction disorders. We show on the example of a young patient with unexplained atypical acquired ptosis and eye movement disorders, the correct interpretation of the diagnostic findings. Of importance is the early detection of potentially life-threatening complications which can lead to sudden cardiac death.
卡恩斯-塞尔综合征是一种罕见的线粒体疾病，通常散发出现，伴有上睑下垂以及慢性进行性眼外肌麻痹、非典型色素性视网膜炎和心脏传导障碍这一临床三联征。我们以一名患有不明原因的非典型后天性上睑下垂和眼球运动障碍的年轻患者为例，展示了对诊断结果的正确解读。重要的是早期发现可能危及生命的并发症，这些并发症可能导致心源性猝死。
