Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments
نویسندگان
چکیده
منابع مشابه
Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments
Familial exudative vitreoretinopathy (FEVR) is a hereditary vitreoretinal disorder that can cause various types of retinal detachments. The abnormalities in eyes with FEVR are caused by poor vascularization in the peripheral retina. The genetics of FEVR is highly heterogeneous, and mutations in the genes for Wnt signaling and a transcription factor have been reported to be responsible for FEVR....
متن کاملFamilial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variabl...
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Two families with familial exudative vitreoretinopathy were studied in which platelet aggregation defects were found in all the affected members. The major defect observed was absent platelet aggregation with arachidonic acid. In addition platelet aggregation with collagen and adrenaline was reduced in one severely affected member. The implication of the platelet aggregation defect in the patho...
متن کاملElectroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy
We evaluated the retinal function of retinal dragging (Rdrag) and radial retinal folds (Rfolds) in eyes with familial exudative vitreoretinopathy (FEVR) using full-field electroretinography (ERG). Seventeen eyes of nine patients with FEVR who had Rdrag or Rfolds were retrospectively studied. Eyes were classified into four groups according to the severity of the retinal alterations: Group 1, wit...
متن کاملfamilial exudative vitreoretinopathy
purpose: to report a relatively rare case of familial exudative vitreoretinopathy (fevr). patient and findings: a 13-year-old boy referred with decreased visual acuity of both eyes, specially right eye from 6 years ago. he had several ophthalmologist and optometrist visits and spectacle prescription without any improvement of vision. best corrected visual acuity (bcva) was 25 cm of count finger...
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ژورنال
عنوان ژورنال: Taiwan Journal of Ophthalmology
سال: 2015
ISSN: 2211-5056
DOI: 10.1016/j.tjo.2015.04.002