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[冯·希佩尔-林道病:家族研究]

[Von Hippel-Lindau disease: family study].

作者信息

González Escobar A B, Morillo Sánchez M J, García-Campos J M

机构信息

Servicio de Oftalmología, Hospital Universitario Virgen de la Victoria, Málaga, España.

出版信息

Arch Soc Esp Oftalmol. 2012 Nov;87(11):368-72. doi: 10.1016/j.oftal.2011.10.005. Epub 2012 Jun 2.

Abstract

CASE REPORT

The case of 5 members of a family who suffer from Von Hippel-Lindau disease (VHL) is presented. It is shown that retinal capillary hemangioma was the main ophthalmic symptom, with hemovitreous and tractional retinal detachment as the main complications.

DISCUSSION

VHL disease is rare, but very serious, even fatal, thus it is important to obtain an early diagnosis by ophthalmoscopy, in order to change the visual prognosis and life expectancy, not only for the patient, but also for the family.

摘要

病例报告

本文介绍了一个患有冯·希佩尔-林道病(VHL)的五口之家的病例。结果显示,视网膜毛细血管瘤是主要的眼部症状,玻璃体积血和牵拉性视网膜脱离是主要并发症。

讨论

VHL病罕见,但非常严重,甚至会致命,因此通过眼底镜检查进行早期诊断很重要,这不仅可以改变患者及其家庭的视力预后和预期寿命。

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