Research advances in familial exudative vitreoretinopathy / 国际眼科杂志(Guoji Yanke Zazhi)
International Eye Science
;
(12): 2270-2273, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-669378
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
International Eye Science
Year:
2017
Type:
Article
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