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[家族性渗出性玻璃体视网膜病变与遗传性视网膜血管迂曲]

[Familial exudative vitreoretinopathy and hereditary retinal vascular tortuosity].

作者信息

Khairallah M, Belaiba A, Aloulou K, Chachia N

机构信息

Service d'Ophtalmologie, C.H.U. Fattouma Bourguiba, Monastir, Tunisie.

出版信息

J Fr Ophtalmol. 1995;18(3):231-7.

PMID:7759764
Abstract

PURPOSE

A 9 year-old child demonstrated symptomatic exudative vitreoretinopathy. The other family members were examined to detect funduscopic changes suggestive of the disease.

METHODS

A complete ocular examination was performed including fundus biomicroscopic examination and fluorescein angiography.

RESULTS

The patient with exudative vitreoretinopathy exhibited retinal neovascularisation and minime vitreous hemorrhage in one eye. He was successfully treated with laser photocoagulation. The mother and her 5 other children had isolated retinal vascular tortuosity.

CONCLUSION

The association in the same pedigree of exudative vitreoretinopathy and retinal vascular tortuosity suggest the same nosologic frame to these autosomal dominant diseases. They could represent different expressions of the same genetic disorder.

摘要

目的

一名9岁儿童表现出症状性渗出性玻璃体视网膜病变。对其他家庭成员进行检查以发现提示该疾病的眼底变化。

方法

进行了全面的眼部检查,包括眼底生物显微镜检查和荧光素血管造影。

结果

患有渗出性玻璃体视网膜病变的患者一只眼睛出现视网膜新生血管形成和少量玻璃体出血。他通过激光光凝治疗成功治愈。母亲和她的其他5个孩子有孤立的视网膜血管迂曲。

结论

在同一家系中渗出性玻璃体视网膜病变和视网膜血管迂曲的关联提示这些常染色体显性疾病具有相同的疾病分类框架。它们可能代表同一基因疾病的不同表现形式。

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