卡恩斯-塞尔综合征，具有无色素性视网膜病变而呈现为脉络膜视网膜萎缩的拟表型。

Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy.

作者信息

Herzberg N H, van Schooneveld M J, Bleeker-Wagemakers E M, Zwart R, Cremers F P, van der Knaap M S, Bolhuis P A, de Visser M

机构信息

Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

出版信息

Neurology. 1993 Jan;43(1):218-21. doi: 10.1212/wnl.43.1_part_1.218.

DOI:10.1212/wnl.43.1_part_1.218

PMID:8423892

Abstract

Mitochondrial DNA (mtDNA) was deleted in a patient with Kearns-Sayre syndrome (KSS) presenting with a choroideremia-like fundus picture instead of pigmentary retinopathy. No evidence for X-linked choroideremia was present, and because of the strong association between KSS and deleted mtDNA, we suggest that choroideremia is a phenocopy and can be part of KSS.

摘要

在一名患有卡恩斯-塞尔综合征（KSS）的患者中，线粒体DNA（mtDNA）出现缺失，该患者眼底表现类似脉络膜骨瘤，而非色素性视网膜病变。未发现X连锁性脉络膜骨瘤的证据，鉴于KSS与缺失的mtDNA之间存在密切关联，我们认为脉络膜骨瘤是一种表型模拟，可能是KSS的一部分。