Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort
نویسندگان
چکیده
منابع مشابه
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.
A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resembling retinopathy of prematurity, retinal folds, or, in advanced cases, enophthalmos or even phthisis. Prognosis depends on the progression of the r...
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
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 کاملClinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary retinal disorder characterized by the premature arrest of vascularization in the peripheral retina. The aim of the present study was to characterize the clinical presentations of a Chinese family affected by bilateral severe FEVR, and to identify the underlying genetic variations. One family that presented with bilateral FEVR was ...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: JAMA Ophthalmology
سال: 2019
ISSN: 2168-6165
DOI: 10.1001/jamaophthalmol.2019.1493