Overview
Familial retinal arterial macroaneurysm (also known as familial retinal arteriolar tortuosity and macroaneurysm or FRAM) is a rare inherited eye condition that affects the blood vessels in the retina — the light-sensitive tissue at the back of the eye. In this disease, small arteries in the retina develop abnormal balloon-like swellings called macroaneurysms. These weakened spots in the blood vessel walls can leak fluid or blood into the surrounding retinal tissue, which can lead to vision problems. The condition runs in families and typically affects multiple members across generations. Patients may experience sudden or gradual vision loss, often due to bleeding (hemorrhage) from the macroaneurysms or fluid leaking into the central part of the retina (macular edema). Some people may have no symptoms at all until a macroaneurysm ruptures. The retinal blood vessels may also appear unusually twisted or tortuous on examination. There is currently no cure for familial retinal arterial macroaneurysm. Treatment focuses on managing complications when they arise. Laser photocoagulation can be used to seal leaking or bleeding macroaneurysms. Anti-VEGF injections (medications injected into the eye) may help reduce swelling and fluid leakage. Regular monitoring by a retinal specialist is essential to detect new macroaneurysms early and preserve vision. The condition differs from the more common non-familial (sporadic) retinal macroaneurysms, which are typically associated with high blood pressure and older age.
Key symptoms:
Sudden painless vision loss in one eyeBlurred or distorted central visionBleeding inside the eye (vitreous hemorrhage)Fluid buildup in the central retina (macular edema)Balloon-like swellings on retinal blood vesselsTwisted or tortuous retinal arteriesFloaters or dark spots in visionReduced sharpness of visionRecurrent episodes of retinal bleeding
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Familial retinal arterial macroaneurysm.
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Specialists
View all specialists →No specialists are currently listed for Familial retinal arterial macroaneurysm.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial retinal arterial macroaneurysm.
Community
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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 often should I have my eyes examined to check for new macroaneurysms?,What symptoms should prompt me to seek emergency eye care?,Should my family members be screened for this condition?,Is genetic testing available for my family, and would it be helpful?,What treatment options are available if a macroaneurysm starts to bleed or leak?,Are there lifestyle changes I can make to reduce the risk of complications?,How likely is it that my children will inherit this condition?
Common questions about Familial retinal arterial macroaneurysm
What is Familial retinal arterial macroaneurysm?
Familial retinal arterial macroaneurysm (also known as familial retinal arteriolar tortuosity and macroaneurysm or FRAM) is a rare inherited eye condition that affects the blood vessels in the retina — the light-sensitive tissue at the back of the eye. In this disease, small arteries in the retina develop abnormal balloon-like swellings called macroaneurysms. These weakened spots in the blood vessel walls can leak fluid or blood into the surrounding retinal tissue, which can lead to vision problems. The condition runs in families and typically affects multiple members across generations. Pati
How is Familial retinal arterial macroaneurysm inherited?
Familial retinal arterial macroaneurysm follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.