Familial exudative vitreoretinopathy
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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]
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Familial exudative vitreoretinopathy
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General | Management Guidelines
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More Detailed Information (Found 5 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer
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General
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of familial exudative vitreoretinopathy. Click on the links below to go to OMIM and review these resources.
Familial exudative vitreoretinopathy 1 Familial exudative vitreoretinopathy 2 Familial exudative vitreoretinopathy 3 Familial exudative vitreoretinopathy 4 Familial exudative vitreoretinopathy 5
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Genetics Home Reference (GHR) contains information on Familial exudative vitreoretinopathy. Click on the link to go to GHR and review the information.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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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.
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Management Guidelines
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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
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Organizations Providing General Support | Social Networking Websites
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Organizations (Found 14 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer
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Vision of Children Foundation (VOC)
12671 High Bluff Drive, Suite 300 San Diego, CA 92130 Telephone: 858-799-0810 Fax: 858-794-2348 E-mail: cdenofrio@visionofchildren.org Web site: http://www.visionofchildren.org
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FEVR.net
Contact: Jane Young E-mail: young1@fevr.net/ Web site: http://www.fevr.net/
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American Foundation for the Blind
2 Penn Plaza, Suite 1102 New York, NY 10121 Toll-free: 1-800-232-5463 Telephone: 212-502-7600 Fax: 888-545-8331 E-mail: afbinfo@afb.net Web site: http://www.afb.org/
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Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100 Columbia, MD 21046 Toll-free: 1-800-683-5555 Telephone: 410-423-0600 (local) TDD: 800-683-5551 E-mail: info@fightblindness.org Web site: www.blindness.org
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American Academy of Ophthalmology
P.O. Box 7424 San Francisco, CA 94120-7424 Telephone: 415-56-8500 Fax: 415-561-8533 Web site: http://www.aao.org/
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Prevent Blindness America
211 West Wacker Drive, Suite 1700 Chicago, Illinois 60606 Toll-free: 1-800-331-2020 Web site: http://www.preventblindness.org/
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National Alliance for Eye and Vision Research (NAEVR)
1801 Rockville Pike, Suite 400 Rockville, MD 20852 Telephone: 240-221-2905 Fax: 240-221-0370 E-mail: jamesj@eyeresearch.org/ Web site: http://www.eyeresearch.org/
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Organizations Providing General Support
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Genetic Alliance
4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org
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National Organization for Rare Disorders (NORD)
55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/
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Social Networking Websites
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The American Foundation for the Blind and also has a message board for parents and health care providers to post messages about children with various eye conditions. Click on the link above to view these message boards.
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DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
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Family Connect, which was created by the Foundation for the Blind and the National Association for Parents of Children with Visual Impairments, helps parents of children with visual impairments to connect with one another. Click on the link above to view their message boards on familial exudative vitreoretinopathy.
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Madisons Foundation
P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
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Testing | Parent Resources
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Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer
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Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
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Testing
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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.
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Parent Resources
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The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
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Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer
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Past Conferences
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RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
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2010 Genetic Alliance Annual Conference , July 15, 2010 - July 18, 2010
Location: Bethesda North Marriott Hotel and Conference Center, Bethesda, Maryland Description: The Genetic Alliance Annual Conference is consistently inspirational and enables partnership among all stakeholders: advocates and community leaders, health and industry professionals, policymakers and academicians.
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VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
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Clinical Trials & Research (Found 5 resources)
Resources where you may find research studies and clinical trials. Disclaimer
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ClinicalTrials.gov lists trials that are studying or have studied Familial exudative vitreoretinopathy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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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.
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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. To find this trial, click on the link above.
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NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
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Patient Registry
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ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.
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