National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial exudative vitreoretinopathy


Other Names:
FEVR; Exudative vitreoretinopathy, familial; Criswick-Schepens syndrome
Categories:

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.[1]

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.[1]
Last updated: 3/4/2011
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.[1]
Last updated: 2/7/2014

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment.[2]
Last updated: 3/3/2011
The severity of familial exudative vitreoretinopathy (FEVR) can vary significantly; even between affected members of the same family. It is estimated that 41% of people with FEVR have mild disease. People with mild disease often experience no symptoms and have normal vision. Children with severe FEVR typically experience signs and symptoms within the first ten years of life. Signs and symptoms may include reduced vision, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. Due to the wide variability of symptoms, we strongly encourage you to discuss your questions regarding your child's prognosis with her treating physician.[2] Early treatment can improve the long-term prognosis/outlook for children with FEVR. 
Last updated: 9/23/2013

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Retinopathy of prematurity (see this term) is the main differential diagnosis and can generally be ruled out based on gestational age, if available. Other similar conditions include Norrie disease, Coats disease, and persistent hyperplastic primary vitreous (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Familial exudative vitreoretinopathy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Familial exudative vitreoretinopathy. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the links below to view articles on the autosomal dominant and the X-linked form of familial exudative vitreoretinopathy.
    Autosomal Dominant FEVR
    X-Linked FEVR
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Familial exudative vitreoretinopathy in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial exudative vitreoretinopathy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • We have a young child who was diagnosed with familial exudative vitreoretinopathy but there is no history of anything even closely similar in either side of our son’s genetic background going back three generations. So as you might expect, my wife and I are wondering where it came from, what triggered it and how will this impact his lineage. See answer

  • My child has fevr. She also has other medical problems, and I am trying to find out if they are linked together with this disease. Could you please tell me if there are other children with this and what there outcomes have been? See answer

  • I am a teacher and I have a student with FEVR. I would like to know if there are any strategies for me to implement to help him. He has undergone laser surgery and wears glasses. He is a second grader and I would like him to meet with success. See answer


  1. Familial exudative vitreoretinopathy. Genetics Home Reference. February 2009; http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy. Accessed 3/3/2011.
  2. Toomes C & Downey L.. Familial exudative vitreoretinopathy, autosomal dominant. GeneReviews. December 11, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1147/. Accessed 3/3/2011.