Kearns-Sayre syndrome: A mitochondrial disease (OMIM #530000); [Kearns-Sayre-Syndrom: Eine mitochondriale Erkrankung (OMIM #530000)]

被引：0
作者：
Mayer W.J. [1 ]
Remy M. [1 ]
Rudolph G. [1 ]
机构：
[1] Augenklinik, Klinikum der Universität, Campus Innenstadt, 80336 München
来源：
Der Ophthalmologe | 2011年 / 108卷 / 5期
关键词：
Chronic progressive external ophthalmoplegia; Kearns-Sayre syndrome; Mitochondrial disease; Muscle biopsy; Ptosis;
D O I：
10.1007/s00347-010-2296-3
中图分类号：
学科分类号：
摘要：
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. © 2010 Springer-Verlag.
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页码：459 / 462
页数：3
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