نتایج جستجو برای: familial exudative vitreoretionopathy
تعداد نتایج: 58744 فیلتر نتایج به سال:
INTRODUCTION Exudative retinal detachments occur as a result of fluid flow alterations and breakdown of the blood retinal barrier which is seen in inflammatory, infectious and neoplastic disease states in addition to abnormal vasculature. Ischaemic central retinal vein occlusion (CRVO) is uncommonly associated with exudative detachments (1, 2). We report a case of exudative retinal detachments ...
PURPOSE To compare the state of the posterior vitreous in exudative age-related macular degeneration (AMD) with eyes with nonexudative AMD and controls. DESIGN Prospective, observational case series. METHODS B-scan ultrasonography and optical coherence tomography (OCT) were performed in 163 eyes from 82 subjects older than 55 years, 50 eyes with exudative AMD, 57 with nonexudative AMD, and ...
AIM To clarify whether the cardio-ankle vascular index (CAVI) independently contributes to the development of exudative age-related macular degeneration (AMD) compared with carotid arteriosclerosis parameters and other risk factors. METHODS Eighty-eight consecutive patients with exudative AMD were enrolled. A control group (40 age-matched men, 65 years of age or older) was also evaluated, and...
[This corrects the article DOI: 10.1155/2017/3080245.].
BACKGROUND/AIMS To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes. METHODS Mutation analysis in a cohort of patients in a single institute was conducted. Bioinformatics was performed for whole exome sequencing, and the variants were confirmed by Sanger sequencing. Clinical data and DNA samples were collected from...
PURPOSE To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. METHODS Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR,...
PURPOSE Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese familie...
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...
PURPOSE To identify novel mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) in southern China and to delineate the mutation-associated clinical manifestations. METHODS Clinical data and genomic DNA were collected from 100 probands and their family members. The coding regions of FZD4 were screened for mutations with PCR and Sanger sequencing. ...
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