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儿童家族性渗出性玻璃体视网膜病变(FEVR)

[Familial exsudative vitreoretinopathy (FEVR) in childhood].

作者信息

Laubichler A E, Laubichler P, Zapp D, Klopfer M, Ulbig M

机构信息

Augenklinik, Klinikum rechts der Isar der Technischen Universität München, Ismaninger Str. 22, 81675, München, Deutschland.

Augenklinik, Kepler Universitätsklinikum, Krankenhausstraße 9, 4021, Linz, Österreich.

出版信息

Ophthalmologe. 2018 Jun;115(6):505-508. doi: 10.1007/s00347-017-0527-6.

Abstract

A case of secondary neovascularization of the optic disc in familial exsudative vitreoretinopathy (FEVR) is reported. A 12-year-old girl presented with decreased visual acuity of the right eye to 0.05. Funduscopy showed a prominent fibrovascular neovascularization of the optic disc covering the macula. Fluorescein angiography demonstrated circular peripheral ischemia as well as vascular anomalies in both eyes. Peripheral laser coagulation of the ischemic retina of the right eye was conducted with the patient under general anesthesia. The central neovascularization regressed and visual acuity increased up to 0.4. Molecular genetic examination detected the LRP5 gene for FEVR.

摘要

本文报道了1例家族性渗出性玻璃体视网膜病变(FEVR)继发视盘新生血管形成的病例。一名12岁女孩右眼视力下降至0.05。眼底检查显示视盘有明显的纤维血管性新生血管形成,累及黄斑区。荧光素血管造影显示双眼周边部环形缺血以及血管异常。在全身麻醉下对该患者右眼缺血性视网膜进行了周边激光光凝治疗。视盘中央新生血管消退,视力提高至0.4。分子遗传学检查检测到该患者存在FEVR相关的LRP5基因。

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