视网膜血管扩张迂曲作为坎图综合征的一个体征。

Dilated and tortuous retinal vessels as a sign of Cantu syndrome.

作者信息

Kisilevsky Eli, Kohly Radha P, Margolin Edward A

机构信息

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.

Sunnybrook Health Sciences Centre, Toronto, ON, Canada.

出版信息

Ophthalmic Genet. 2019 Oct;40(5):453-454. doi: 10.1080/13816810.2019.1666415. Epub 2019 Oct 4.

DOI:10.1080/13816810.2019.1666415

PMID:31584310

Abstract

When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those seen in patients with WMS and want to highlight this as another entity that can present with tortuous and dilated retinal vessels.

摘要

当遇到视网膜血管明显扩张和迂曲的患者时，Wyburn-Mason综合征（WMS）或蔓状血管瘤病（母斑病）通常被认为是可产生这些表现的典型疾病。我们描述了一名患有坎图综合征的患者，其表型表现与WMS患者所见相同，并想强调这是另一种可表现为视网膜血管迂曲和扩张的疾病。