Familial exudative vitreoretinopathy

Common Name(s)

Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.

FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial exudative vitreoretinopathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial exudative vitreoretinopathy" returned 35 free, full-text research articles on human participants. First 3 results:

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

Author(s): 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:

 

To investigate the clinical features and disease-causing mutations in two Chinese families with familial exudative vitreoretinopathy (FEVR).

Last Updated: 9 Apr 2014

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ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
 

Author(s): Rob W J Collin, Konstantinos Nikopoulos, Margo Dona, Christian Gilissen, Alexander Hoischen, F Nienke Boonstra, James A Poulter, Hiroyuki Kondo, Wolfgang Berger, Carmel Toomes, Tomoko Tahira, Lucas R Mohn, Ellen A Blokland, Lisette Hetterschijt, Manir Ali, Johanne M Groothuismink, Lonneke Duijkers, Chris F Inglehearn, Lea Sollfrank, Tim M Strom, Eiichi Uchio, C Erik van Nouhuys, Hannie Kremer, Joris A Veltman, Erwin van Wijk, Frans P M Cremers

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Jun;110(24):9856-61.

 

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which can result in retinal detachment and severe visual impairment. In a large Dutch FEVR family, we performed linkage analysis, ...

Last Updated: 12 Jun 2013

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Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.
 

Author(s): Huiqin Yang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang

Journal: Mol. Vis.. 2012 ;18():2438-46.

 

To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population.

Last Updated: 18 Oct 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial exudative vitreoretinopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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