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慢性进行性眼外肌麻痹、色素性视网膜病变和心脏传导阻滞(卡恩斯-塞尔综合征)。病例报告。

Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case.

作者信息

Lowes M

出版信息

Acta Ophthalmol (Copenh). 1975 Sep;53(4):610-9. doi: 10.1111/j.1755-3768.1975.tb01779.x.

DOI:10.1111/j.1755-3768.1975.tb01779.x
PMID:1242281
Abstract

Chronic progressive external ophthalmoplegia associated with a pigmentary retinopathy and heart block was described by Kearns & Sayre in 1958. They suggested that the triad represented a syndrome. The cases recorded since then are reviewed and summarised, and several common features are noted. Little attention has previously been paid to the retinopathy. A similar case is presented, and the pigment changes, retinal function, annd fluorescein angiography are examined. There is no clinical evidence for the diagnosis of classical retinitis pigmentosa. The prognosis and aetiology of the condition are discussed.

摘要

1958年,卡恩斯和塞尔描述了伴有色素性视网膜病变和心脏传导阻滞的慢性进行性眼外肌麻痹。他们认为这三联征代表一种综合征。对此后记录的病例进行了回顾和总结,并指出了几个共同特征。此前对视网膜病变关注甚少。现报告一例类似病例,并对色素变化、视网膜功能和荧光素血管造影进行了检查。没有临床证据支持诊断为典型的色素性视网膜炎。对该疾病的预后和病因进行了讨论。

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1
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case.慢性进行性眼外肌麻痹、色素性视网膜病变和心脏传导阻滞(卡恩斯-塞尔综合征)。病例报告。
Acta Ophthalmol (Copenh). 1975 Sep;53(4):610-9. doi: 10.1111/j.1755-3768.1975.tb01779.x.
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[Complete heart blockade, external ophthalmoplegia, and pigmentary retinitis].[完全性心脏传导阻滞、眼外肌麻痹和色素性视网膜炎]
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[Mitochondrial anomalies in Kearns' syndrome. (External ophthalmoplegia, pigmentary retinopathy, and intracardiac conduction disorders].[卡恩斯综合征中的线粒体异常。(眼外肌麻痹、色素性视网膜病变和心内传导障碍)]
Bull Soc Belge Ophtalmol. 1974;167:702-23.
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Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1975 Jun 6;195(3):195-200. doi: 10.1007/BF00410471.

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Prog Retin Eye Res. 2018 May;64:131-156. doi: 10.1016/j.preteyeres.2017.11.002. Epub 2017 Nov 22.
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Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.线粒体细胞病。一种多系统疾病,肌肉活检可见破碎红纤维。
Arch Dis Child. 1981 Oct;56(10):741-52. doi: 10.1136/adc.56.10.741.
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The Kearns-Sayre syndrome: a light and electron microscopic study.
卡恩斯-塞尔综合征:光镜与电镜研究
Trans Am Ophthalmol Soc. 1982;80:218-34.