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 37 free, full-text research articles on human participants. First 3 results:

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
 

Author(s): Hong Yan Liu, Jia Huang, Rui Li Wang, Yue Wang, Liang Jie Guo, Tao Li, Dong Wu, Hong Dan Wang, Qian Nan Guo, Dao Quan Dong

Journal: J Chin Med Assoc. 2016 Nov;79(11):633-638.

 

Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP) in a Chinese family with X-linked FEVR. Ophthalmologic ...

Last Updated: 10 Oct 2016

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Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy.
 

Author(s): Zhongxiao Wang, Chi-Hsiu Liu, Ye Sun, Yan Gong, Tara L Favazza, Peyton C Morss, Nicholas J Saba, Thomas W Fredrick, Xi He, James D Akula, Jing Chen

Journal: Am. J. Pathol.. 2016 Oct;186(10):2588-600.

 

Familial exudative vitreoretinopathy (FEVR) is characterized by delayed retinal vascular development, which promotes hypoxia-induced pathologic vessels. In severe cases FEVR may lead to retinal detachment and visual impairment. Genetic studies linked FEVR with mutations in Wnt signaling ...

Last Updated: 23 Sep 2016

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Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.
 

Author(s): Ping Fei, Xiong Zhu, Zhilin Jiang, Shi Ma, Jing Li, Qi Zhang, Yu Zhou, Yu Xu, Zhengfu Tai, Lin Zhang, Lulin Huang, Zhenglin Yang, Peiquan Zhao, Xianjun Zhu

Journal:

 

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease characterized by defects in the development of retinal vessels. However, known genetic mutations can only explain approximately 50% of FEVR patients. To assess the mutation frequency of Frizzled 4 (FZD4) in Chinese ...

Last Updated: 4 Nov 2015

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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 1 free, full-text review articles on human participants. First 3 results:

Familial exudative vitreoretinopathy and related retinopathies.
 

Author(s): D F Gilmour

Journal: Eye (Lond). 2015 Jan;29(1):1-14.

 

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary ...

Last Updated: 8 Jan 2015

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