Visual loss from retinal oedema in autosomal dominant exudative vitreoretinopathy.
نویسندگان
چکیده
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 dominant exudative vitreoretinopathy who lost vision at a later age and from different causes than previously reported.
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...
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AIMS To search for mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) and to delineate the defective gene associated clinical features. METHODS Direct sequencing following polymerase chain reaction of exons of FZD4 was performed for 24 probands with FEVR (18 familial and six sporadic), and some of their families. Clinical symptoms among indivi...
متن کاملGenetic 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 کاملLymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
PURPOSE To describe immunohistopathological findings in autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV). METHODS An enucleated eye specimen from a patient with Stage V ADNIV was examined using standard histopathological methods and lymphocyte markers. RESULTS A c.731T>C CAPN5 mutation resulted in a p.Leu244Pro substitution in calpain-5. The eye showed exudative retinal...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 66 10 شماره
صفحات -
تاریخ انتشار 1982