Living with Retinal arterial tortuosity
A rare genetic condition where small arteries in the back of the eye are twisted, which can cause short episodes of vision loss.
Understanding Retinal arterial tortuosity
It is described as a small blood vessel disease of the brain and eye. The twisting affects certain small arteries near the center of the retina and develops in childhood or early adulthood. Some people have no symptoms. Most have temporary vision loss from bleeding in the retina after physical effort or a minor injury.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Twisted small arteries in the retina
- Bleeding in the retina (retinal hemorrhage)
- Temporary vision loss
- Extreme sensitivity to light (photophobia)
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 and genetic specialists.
- 3Consider genetic testing
Changes in COL4A1 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); Genetic specialists (geneticists)
- 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
It is caused by changes in the COL4A1 gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: familial isolated retinal arterial tortuosity; retinal arterial tortuosity (disease); retinal arteries, tortuosity of; retinal arteriolar tortuosity; retinal artery tortuousity; retinal haemorrhage with vascular tortuosity
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 Retinal arterial tortuosity.
Explore research for Retinal arterial tortuosity
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