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一名患有瓦登伯格综合征患者的视网膜分支静脉阻塞。

Branch retinal vein occlusion in a patient with Waardenburg syndrome.

作者信息

Kadoi C, Hayasaka S, Yamamoto S

机构信息

Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Japan.

出版信息

Ophthalmologica. 1996;210(6):354-7. doi: 10.1159/000310744.

DOI:10.1159/000310744
PMID:8887394
Abstract

A 43-year-old woman (case II-2) with dystopia canthorum, white forelock, blue iris in the left eye, hypopigmented fundi, and systemic hypertension complained of visible floaters in the left eye. Whitish branch retinal vein, preretinal hemorrhages and neovascularization were found in the left fundus. Her intraocular pressure in the left eye was sometimes elevated to 22 mm Hg. The patient's brother (case II-3) was reported to have blue irises in both eyes. We believe that these patients have Waardenburg syndrome, that branch retinal vein occlusion in case II-2 may be caused chiefly by systemic hypertension, and that elevated intraocular pressure associated with the blue iris may be partly involved in the pathogenesis of vein occlusion in the left eye.

摘要

一名43岁女性(病例II-2)患有内眦异位、白色额发、左眼蓝色虹膜、眼底色素减退和系统性高血压,主诉左眼可见飞蚊症。左眼眼底发现白色分支视网膜静脉、视网膜前出血和新生血管形成。她的左眼眼压有时升高至22 mmHg。据报道,该患者的兄弟(病例II-3)双眼为蓝色虹膜。我们认为这些患者患有瓦登伯革氏综合征,病例II-2中的视网膜分支静脉阻塞可能主要由系统性高血压引起,而与蓝色虹膜相关的眼压升高可能部分参与了左眼静脉阻塞的发病机制。

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J Med Case Rep. 2022 Jul 6;16(1):264. doi: 10.1186/s13256-022-03460-1.
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Ophthalmological features and treatments in five cases of Waardenburg syndrome.5例瓦登伯格综合征的眼科特征及治疗
Exp Ther Med. 2020 Oct;20(4):3072-3077. doi: 10.3892/etm.2020.9035. Epub 2020 Jul 23.
3
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
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4
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.2型瓦尔登堡综合征病例中的屈光参差性弱视。
BMJ Case Rep. 2013 Dec 18;2013:bcr2013201140. doi: 10.1136/bcr-2013-201140.