Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree
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منابع مشابه
Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.
BACKGROUND/AIMS Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR. METHODS Affected members and...
متن کاملFurther evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.
BACKGROUND/AIMS Familial exudative vitreoretinopathy (FEVR) is an inherited blinding condition characterised by abnormal development of the retinal vasculature. The aim of this study was to perform linkage analysis in a large family affected with FEVR to determine whether the mutation involved was in one of the three known autosomal dominant FEVR loci or in another as yet unidentified gene. M...
متن کاملAutosomal dominant exudative vitreoretinopathy.
Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progre...
متن کاملVisual loss from retinal oedema in autosomal dominant exudative vitreoretinopathy.
Correspondence to Professor A. C. Bird. ance pattern and delineated the spectrum of its expression more fully. They emphasised that the major threats to vision are haemorrhage and retinal detachment, that progression is limited to the early years of life, and specifically that visual loss has not been recorded in patients older than 18 years. In this report we present a patient with autosomal d...
متن کاملKIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
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...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2000
ISSN: 0007-1161
DOI: 10.1136/bjo.84.4.358