Research advances in familial exudative vitreoretinopathy
10.3980/j.issn.1672-5123.2017.12.19
- VernacularTitle:家族性渗出性玻璃体视网膜病变研究进展
- Author:
Ma XUE-YUN
1
;
Shen YIN
;
Xing YI-QIAO
Author Information
1. 武汉大学人民医院眼科中心
- Keywords:
familial exudative vitreoretinopathy;
clinical classification;
genes mutation;
vitreoretinopathy
- From:
International Eye Science
2017;17(12):2270-2273
- CountryChina
- Language:Chinese
-
Abstract:
·Familial exudative vitreoretinopathy ( FEVR ) is a hereditary disease associated with abnormal angiogenesis in the pediatric period. The most prominent finding of the disease is avascularity in the peripheral retina. Whereas, the phenotypic features are variable. In some minor cases, missed diagnosis would happened due to asymptom, while, in severe FEVR, neovascularization, retinal exudation, retinal folds, macular heterotopy and retinal detachment may occur and give rise to extremely poor vision or even blindness. Mutations in the FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 genes have been reported to contribute to FEVR with X - linked recessive, autosomal dominant, and autosomal recessive inheritance manners. We have summarized aspects of pathogenesis, clinical features and classification, mutations genes as well as diagnosis and treatment of FEVR in this review.
