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

Familial exudative vitreoretinopathy complicated with full thickness macular hole: A case report.
 

Author(s): Daisaku Kimura, Takatoshi Kobayashi, Eri Maruyama, Shou Oosuka, Ryohsuke Kohmoto, Masanori Fukumoto, Takaki Sato, Teruyo Kida, Tsunehiko Ikeda

Journal: Medicine (Baltimore). 2018 Jun;97(23):e11048.

 

To report a case of familial exudative vitreoretinopathy (FEVR) complicated with full-thickness macular hole (FTMH).

Last Updated: 31 Dec 1969

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Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.
 

Author(s): Ying Lin, Hongbin Gao, Chuan Chen, Yi Zhu, Tao Li, Bingqian Liu, Chenghong Ma, Hongye Jiang, Yonghao Li, Ying Huang, Qingxiu Wu, Haichun Li, Xiaoling Liang, Chenjin Jin, Jianhua Ye, Xinhua Huang, Lin Lu

Journal: Int. J. Mol. Med.. 2018 Feb;41(2):773-782.

 

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary retinal disorder characterized by the premature arrest of vascularization in the peripheral retina. The aim of the present study was to characterize the clinical presentations of a Chinese family affected by bilateral ...

Last Updated: 31 Dec 1969

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Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.
 

Author(s): Xiao-Yan Huang, Hong Zhuang, Ji-Hong Wu, Jian-Kang Li, Fang-Yuan Hu, Yu Zheng, Laurent Christian Asker M Tellier, Sheng-Hai Zhang, Feng-Juan Gao, Jian-Guo Zhang, Ge-Zhi Xu

Journal:

 

Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given ...

Last Updated: 31 Dec 1969

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

Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management.
 

Author(s): Zujaja Tauqeer, Yoshihiro Yonekawa

Journal: Asia Pac J Ophthalmol (Phila). ;7(3):176-182.

 

Familial exudative vitreoretinopathy (FEVR) is a heritable vitreoretinopathy characterized by anomalous retinal vascular development. The principal feature of the disease is an avascular peripheral retina. This in turn can cause further pathological changes including neovascularization, ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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