Living with Familial retinal arterial macroaneurysm
An inherited condition affecting blood vessels in the eyes and a narrowing near the heart's lung valve, starting in infancy or childhood.
Understanding Familial retinal arterial macroaneurysm
It usually shows up in infancy or childhood. Arteries in the retina develop small bulges (beading) and later larger bulges (macroaneurysms) that can burst and bleed, causing vision loss. People also have a narrowing just above the heart valve that sends blood to the lungs, which can cause shortness of breath, a fast heartbeat, tiredness, and swelling.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bulges in retinal arteries (macroaneurysms)
- Narrowing of the pulmonic valve area
- Fluid causing retinal detachment
- Shortness of breath
- Fast heartbeat and tiredness
- Swelling in the face, feet, or belly
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in IGFBP7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the IGFBP7 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fram; fram - familial retinal arterial macroaneurysm; ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis; retinal arterial macroaneurysm and supravalvular pulmonic stenosis; retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial retinal arterial macroaneurysm.
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