Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
نویسندگان
چکیده
منابع مشابه
Familial 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...
متن کاملMutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.
Purpose LRP5, NDP, and TSPAN12 are known to be associated with familial exudative vitreoretinopathy (FEVR). In this study, a comprehensive mutation screening for the three genes was performed in patients with a clinical diagnosis of FEVR in Han Chinese. Methods Genomic DNA and clinical data were collected from 100 probands and their family members. Sanger sequencing was performed to screen fo...
متن کاملFamilial exudative vitreoretinopathy associated with familial thrombocytopathy.
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 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...
متن کاملExcessive myopia and anisometropia associated with familial exudative vitreoretinopathy.
BACKGROUND To describe associations between familial exudative vitreoretinopathy (FEVR) and refractive status. METHODS We conducted retrospective studies of patients with clinical diagnoses of familial exudative vitreoretinopathy from June 1986 through September 2000. All patients had cycloplegic refraction, visual acuity with correction, and underwent fundus examination. Ocular history since...
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ژورنال
عنوان ژورنال: Journal of Ophthalmology
سال: 2019
ISSN: 2090-004X,2090-0058
DOI: 10.1155/2019/5782536