[家族性冯-希佩尔-林道综合征合并黄斑视网膜前膜的视乳头旁毛细血管性视网膜血管瘤]

[Juxtapapillary capillary retinal angioma with epiretinal membrane of the macula in familial Von-Hippel-Lindau-Syndrome].

作者信息

Kreusel K-M, Bechrakis N E, Neumann H P H, Foerster M H

机构信息

Augen-Zentrum, DRK-Kliniken Westend, Berlin, Deutschland.

出版信息

Ophthalmologe. 2007 Apr;104(4):317-20. doi: 10.1007/s00347-006-1442-4.

DOI:10.1007/s00347-006-1442-4

PMID:17123050

Abstract

A case of juxtapapillary capillary retinal angioma associated with a vascularized epiretinal membrane of the macula in a 6-year-old girl is presented. Von-Hippel-Lindau-Syndrome was revealed by molecular genetic methods, and further family members were identified as gene carriers. The retinal angioma embedded in an epiretinal membrane was removed completely with the membrane by pars plana vitrectomy with a good functional result. Histopathology confirmed the diagnosis of capillary angioma.

摘要

本文报告了一名6岁女孩患视乳头旁视网膜毛细血管瘤并伴有黄斑部血管化视网膜前膜的病例。通过分子遗传学方法确诊为冯·希佩尔-林道综合征，并进一步确定其他家庭成员为基因携带者。通过玻璃体视网膜切除术将嵌入视网膜前膜的视网膜血管瘤与该膜一并完全切除，术后功能恢复良好。组织病理学确诊为毛细血管瘤。