X连锁家族性渗出性玻璃体视网膜病变。一家系报告。
X-linked familial exudative vitreoretinopathy. Report of one family.
作者信息
Clement F, Beckford C A, Corral A, Jimenez R
机构信息
Department of Ophthalmology, Hospital Universitario Principe de Astrias, Alcalá de Henares, Madrid, Spain.
出版信息
Retina. 1995;15(2):141-5.
BACKGROUND
Familial exudative vitreoretinopathy is an uncommon heredodegenerative disease with different types of inheritance and degrees of severity.
METHODS
Findings in five affected members of a family in which the X-linked mode of inheritance of familial exudative vitreoretinopathy is present are discussed.
RESULTS
Patients presented with characteristic retinal exudative tractional detachment, temporal retinal vessel traction, capillary dilatation, neovascularization, and vitreous veils.
CONCLUSION
A review of the 21 cases of X-linked familial exudative vitreoretinopathy reported to date indicates a worse outcome in this mode of inheritance than in cases of autosomal dominant inheritance.
背景
家族性渗出性玻璃体视网膜病变是一种罕见的遗传性退行性疾病，具有不同的遗传类型和严重程度。
方法
讨论了一个存在家族性渗出性玻璃体视网膜病变X连锁遗传模式的家族中五名受累成员的检查结果。
结果
患者表现出特征性的视网膜渗出性牵拉性脱离、颞侧视网膜血管牵拉、毛细血管扩张、新生血管形成和玻璃体膜。
结论
对迄今报道的21例X连锁家族性渗出性玻璃体视网膜病变病例的回顾表明，这种遗传模式的预后比常染色体显性遗传病例更差。
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