Overview
Familial isolated retinal arteriolar tortuosity (also sometimes called hereditary retinal arteriolar tortuosity) is a rare inherited eye condition that affects the small blood vessels in the retina — the light-sensitive layer at the back of your eye. In this condition, the tiny arteries (arterioles) in the retina are unusually twisted or coiled instead of following a relatively straight path. This twisting is present from birth and tends to run in families. For most people, the twisted blood vessels do not cause any noticeable problems with everyday vision. However, the main concern is that these fragile, twisted vessels can sometimes bleed spontaneously, especially after physical exertion, minor trauma, or straining. When bleeding occurs inside the eye, a person may notice sudden blurring, dark spots, or streaks in their vision. These episodes are usually temporary and vision often recovers on its own, but repeated bleeds over time could potentially affect long-term vision. This condition is considered 'isolated' because it affects only the retinal blood vessels and is not linked to problems in other parts of the body, such as the heart or brain. There is no cure, but most people live normal lives with regular eye check-ups to monitor the vessels and catch any bleeding early. Management focuses on protecting the eyes and avoiding activities that significantly raise blood pressure in the head.
Also known as:
Key symptoms:
Unusually twisted or coiled blood vessels visible in the retina on eye examSudden blurring of vision, often after exercise or strainingDark spots or floaters in vision during a bleeding episodeStreaks or shadows in the visual fieldVision that usually clears up on its own after a bleedOccasional mild eye discomfort during a bleeding episodeNo symptoms at all in many people (condition found incidentally during eye exam)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Familial isolated retinal arteriolar tortuosity.
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Specialists
View all specialists →No specialists are currently listed for Familial isolated retinal arteriolar tortuosity.
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 isolated retinal arteriolar tortuosity.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 twisted are my retinal blood vessels, and how does that compare to others with this condition?,Which physical activities or sports should I avoid, and are there safe alternatives?,How often do I need eye exams, and what exactly will you be looking for?,Should my children and other family members be tested or examined?,What are the warning signs that I need to go to the emergency room right away?,Should I have genetic testing, and would the results change my management?,Is there anything I can do to reduce the risk of a bleeding episode?
Common questions about Familial isolated retinal arteriolar tortuosity
What is Familial isolated retinal arteriolar tortuosity?
Familial isolated retinal arteriolar tortuosity (also sometimes called hereditary retinal arteriolar tortuosity) is a rare inherited eye condition that affects the small blood vessels in the retina — the light-sensitive layer at the back of your eye. In this condition, the tiny arteries (arterioles) in the retina are unusually twisted or coiled instead of following a relatively straight path. This twisting is present from birth and tends to run in families. For most people, the twisted blood vessels do not cause any noticeable problems with everyday vision. However, the main concern is that t
How is Familial isolated retinal arteriolar tortuosity inherited?
Familial isolated retinal arteriolar tortuosity follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial isolated retinal arteriolar tortuosity typically begin?
Typical onset of Familial isolated retinal arteriolar tortuosity is childhood. Age of onset can vary across affected individuals.