Literature DB >> 6626002

Autosomal dominant exudative vitreoretinopathy.

E L Feldman, J L Norris, G W Cleasby.   

Abstract

Eight family members had familial exudative vitreoretinopathy. They exhibited a variety of clinical stages of the disease process. Some clinical findings included retinal detachment, fibrovascular masses with dragged disc and macula, neovascular fronds and intraretinal deposits. The fundus and angiographic findings were found to be similar to those in cases reported previously. Electroretinograms were normal. Of particular interest in this pedigree was the sole clinical finding of isolated intraretinal deposits in four family members. This characteristic may represent a mild expression of the disease and warrant appropriate genetic counseling. Our study confirms the variable clinical expression of the disease.

Entities:  

Mesh:

Year:  1983        PMID: 6626002     DOI: 10.1001/archopht.1983.01040020534004

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  8 in total

1.  Electrophysiological findings in familial exudative vitreoretinopathy.

Authors:  H Ohkubo; T Tanino
Journal:  Doc Ophthalmol       Date:  1987-04       Impact factor: 2.379

2.  Familial exudative vitreoretinopathy.

Authors:  W E Benson
Journal:  Trans Am Ophthalmol Soc       Date:  1995

3.  Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Authors:  Konstantinos Nikopoulos; Christian Gilissen; Alexander Hoischen; C Erik van Nouhuys; F Nienke Boonstra; Ellen A W Blokland; Peer Arts; Nienke Wieskamp; Tim M Strom; Carmen Ayuso; Mauk A D Tilanus; Sanne Bouwhuis; Arijit Mukhopadhyay; Hans Scheffer; Lies H Hoefsloot; Joris A Veltman; Frans P M Cremers; Rob W J Collin
Journal:  Am J Hum Genet       Date:  2010-02-12       Impact factor: 11.025

4.  Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del).

Authors:  Yong Zheng Wai; Yong Yuin Chong; Lik Thai Lim; Norhafizah Hamzah; Jamalia Rahmat
Journal:  Int J Retina Vitreous       Date:  2022-05-16

5.  X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

Authors:  P Fullwood; J Jones; S Bundey; J Dudgeon; A R Fielder; M W Kilpatrick
Journal:  Br J Ophthalmol       Date:  1993-03       Impact factor: 4.638

6.  Analysis of Predisposing Clinical Features for Worsening Traction After Treatment of Familial Exudative Vitreoretinopathy in Children.

Authors:  G Baker Hubbard; Alexa L Li
Journal:  Am J Ophthalmol       Date:  2020-07-21       Impact factor: 5.258

7.  Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.

Authors:  Huiqin Yang; Xueshan Xiao; Shiqiang Li; Guiying Mai; Qingjiong Zhang
Journal:  Mol Vis       Date:  2011-04-29       Impact factor: 2.367

8.  Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Authors:  Ping Fei; Qi Zhang; Luling Huang; Yu Xu; Xiong Zhu; Zhengfu Tai; Bo Gong; Shi Ma; Quanyao Yao; Jing Li; Peiquan Zhao; Zhenglin Yang
Journal:  Mol Vis       Date:  2014-03-29       Impact factor: 2.367

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.