Familial exudative vitreoretinopathy

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ORPHA:891OMIM:133780H35.0
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Overview

Familial exudative vitreoretinopathy, often called FEVR, is a rare inherited eye condition that affects the development of blood vessels in the retina — the light-sensitive tissue at the back of the eye. In FEVR, the blood vessels that normally grow to cover the entire retina during fetal development fail to reach the outer edges. This incomplete blood vessel growth can lead to a range of vision problems, from very mild cases with no noticeable symptoms to severe cases with significant vision loss. The severity of FEVR varies widely, even among members of the same family. In mild cases, a person may have no symptoms and the condition is only found during a detailed eye exam. In more severe cases, the abnormal blood vessels can leak fluid (exudation), form scar tissue, and pull on the retina, potentially causing retinal folds or retinal detachment. Some patients may also develop abnormal new blood vessel growth (neovascularization), bleeding inside the eye (vitreous hemorrhage), or cataracts. Treatment depends on the severity. Mild cases may only need regular monitoring. More advanced cases may require laser therapy to seal leaking blood vessels, cryotherapy (freezing treatment), or surgery to repair retinal detachment. Early detection and treatment are important to preserve as much vision as possible. FEVR is a lifelong condition, and regular eye exams are essential because the disease can progress over time, even in adulthood.

Also known as:

Key symptoms:

Reduced or blurry visionVision loss in one or both eyesRetinal detachmentAbnormal blood vessel growth in the retinaLeaking fluid from retinal blood vesselsBleeding inside the eyeWhite pupil reflex (leukocoria)Crossed eyes or misaligned eyes (strabismus)Retinal folds or dragging of the retinaCataractsPeripheral vision lossFloaters in the visionDifference in vision between the two eyes

Clinical phenotype terms (27)— hover any for plain English
VitreoretinopathyHP:0007773Avascular peripheral retinaHP:0007685Falciform retinal foldHP:0001493Tractional retinal detachmentHP:0007917Abnormal optic disc morphologyHP:0012795Retinal neovascularizationHP:0030666Subretinal fluidHP:0031526Chorioretinal atrophyHP:0000533Severely reduced visual acuityHP:0001141Vitreous hemorrhageHP:0007902
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial exudative vitreoretinopathy.

View clinical trials →

No actively recruiting trials found for Familial exudative vitreoretinopathy at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Familial exudative vitreoretinopathy community →

No specialists are currently listed for Familial exudative vitreoretinopathy.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial exudative vitreoretinopathy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Familial exudative vitreoretinopathy

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the FEVR in each of my eyes, and what stage is it at?,Do I need treatment now, or can we monitor for now?,How often should I have eye exams to check for progression?,Should my family members be screened, and if so, what tests do they need?,Would genetic testing help us understand the inheritance pattern in our family?,What signs or symptoms should prompt me to seek emergency eye care?,Are there any activities or situations I should avoid to protect my vision?

Common questions about Familial exudative vitreoretinopathy

What is Familial exudative vitreoretinopathy?

Familial exudative vitreoretinopathy, often called FEVR, is a rare inherited eye condition that affects the development of blood vessels in the retina — the light-sensitive tissue at the back of the eye. In FEVR, the blood vessels that normally grow to cover the entire retina during fetal development fail to reach the outer edges. This incomplete blood vessel growth can lead to a range of vision problems, from very mild cases with no noticeable symptoms to severe cases with significant vision loss. The severity of FEVR varies widely, even among members of the same family. In mild cases, a per