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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 39 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: 31 Dec 1969

Go To URL
Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy.
 

Author(s): Miao Tang, Xiaoyan Ding, Jiaqing Li, Andina Hu, Miner Yuan, Yu Yang, Zongyi Zhan, Zijing Li, Lin Lu

Journal:

 

To identify novel mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) in southern China and to delineate the mutation-associated clinical manifestations.

Last Updated: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL

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: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.