Retinal capillary malformation

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ORPHA:71213D18.0
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4Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Retinal capillary malformation, also known as retinal capillary hemangioma or retinal angioma, is a rare condition where abnormal clusters of tiny blood vessels (capillaries) grow in the retina — the light-sensitive layer at the back of the eye. These abnormal blood vessel growths are benign (non-cancerous) tumors, but they can cause serious problems with vision over time. The condition may affect one eye or both eyes, and a person can have one or several of these growths. The most important thing to know is that retinal capillary malformations are strongly linked to a hereditary condition called Von Hippel-Lindau (VHL) disease. In VHL disease, similar abnormal blood vessel growths can also appear in the brain, spine, kidneys, and other organs. Not everyone with a retinal capillary malformation has VHL disease, but all patients should be evaluated for it. Symptoms depend on the size and location of the malformation. Small growths may cause no symptoms at all and are found during a routine eye exam. Larger growths can cause blurry vision, distorted vision, floaters, or even significant vision loss if the retina becomes damaged or detached. Treatment options include laser therapy, cryotherapy (freezing), and other targeted approaches to destroy or shrink the abnormal vessels. Early detection is key to protecting vision.

Also known as:

Key symptoms:

Blurry or distorted visionFloaters (spots or lines drifting across your field of vision)Decreased sharpness of central visionLoss of peripheral (side) visionSudden or gradual vision loss in one eyeSeeing flashes of lightRetinal detachment (the retina pulling away from the back of the eye)No symptoms at all in early or small lesions (found only on eye exam)

Clinical phenotype terms (19)— hover any for plain English
Retinal capillary hemangiomaHP:0009711Retinal exudateHP:0001147Vitreous hemorrhageHP:0007902Retinal microaneurysmHP:0032416Subretinal exudateHP:0011532HyphemaHP:0011886AnisometropiaHP:0012803Paracentral scotomaHP:0030528PhotopsiaHP:0030786Epiretinal membraneHP:0100014Vitreous floatersHP:0100832
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Retinal capillary malformation.

View clinical trials →

No actively recruiting trials found for Retinal capillary malformation at this time.

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

Search ClinicalTrials.gov ↗Join the Retinal capillary malformation community →

Specialists

4 foundView all specialists →
SF
Sharon Fekrat, MD FACS FASRS
WILSON, NC
Specialist
PI on 1 active trial
DM
Dilraj Grewal, MD
STOCKTON, CA
Specialist
PI on 1 active trial
HM
Henry E Wiley, M.D.
TAMPA, FL
Specialist
PI on 1 active trial
CP
Chi Hornik, PharmD
DURHAM, NC
Specialist
PI on 1 active trial

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 Retinal capillary malformation.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Retinal capillary malformation

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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.Do I need to be tested for Von Hippel-Lindau (VHL) disease, and should my family members be tested too?,How large is my retinal malformation, and what is the risk to my vision if it is not treated?,Which treatment option is best for my specific situation, and what are the risks and benefits?,How often do I need to come in for monitoring, and what signs should prompt me to call sooner?,Are there other parts of my body that need to be checked for similar growths?,Is there anything I should avoid doing that could make my condition worse?,Are there any clinical trials or newer treatments I should know about?

Common questions about Retinal capillary malformation

What is Retinal capillary malformation?

Retinal capillary malformation, also known as retinal capillary hemangioma or retinal angioma, is a rare condition where abnormal clusters of tiny blood vessels (capillaries) grow in the retina — the light-sensitive layer at the back of the eye. These abnormal blood vessel growths are benign (non-cancerous) tumors, but they can cause serious problems with vision over time. The condition may affect one eye or both eyes, and a person can have one or several of these growths. The most important thing to know is that retinal capillary malformations are strongly linked to a hereditary condition ca

How is Retinal capillary malformation inherited?

Retinal capillary malformation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Retinal capillary malformation?

4 specialists and care centers treating Retinal capillary malformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.