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

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.
 

Author(s): Jason Salvo, Vera Lyubasyuk, Mingchu Xu, Hui Wang, Feng Wang, Duy Nguyen, Keqing Wang, Hongrong Luo, Cindy Wen, Catherine Shi, Danni Lin, Kang Zhang, Rui Chen

Journal:

 

Familial exudative vitreoretinopathy (FEVR) is a developmental disease that can cause visual impairment and retinal detachment at a young age. Four genes involved in the Wnt signaling pathway were previously linked to this disease: NDP, FDZ4, LRP5, and TSPAN12. Identification of novel ...

Last Updated: 20 Mar 2015

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Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
 

Author(s): Yu Xu, Lulin Huang, Jing Li, Qi Zhang, Ping Fei, Xiong Zhu, Zhengfu Tai, Shi Ma, Bo Gong, Yun Li, Weizhou Zang, Xianjun Zhu, Peiquan Zhao, Zhenglin Yang

Journal:

 

Familial exudative vitreoretinopathy (FEVR) is a group of inherited blinding eye diseases characterized by defects in the development of the retinal vessels. Recent studies have identified genetic variants in tetraspanin 12 (TSPAN12) as a cause of FEVR. The purpose of this study was ...

Last Updated: 29 Oct 2014

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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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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

There are currently no open clinical trials for this condition.