Overview
Choroidal atrophy-alopecia syndrome is an extremely rare genetic condition that affects both the eyes and the hair. The name describes its two main features: choroidal atrophy, which is a thinning or breakdown of the choroid (the layer of blood vessels at the back of the eye that nourishes the retina), and alopecia, which means hair loss. People with this syndrome typically experience progressive vision problems due to the deterioration of the choroid layer, which can lead to significant visual impairment over time. The hair loss can range from patchy to more widespread and may begin early in life. Because this condition is so rare, with very few cases described in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment remains limited. There is currently no cure for this syndrome. Treatment is mainly supportive and focuses on managing the individual symptoms — for example, low-vision aids for eye problems and cosmetic solutions for hair loss. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk. Patients benefit from a team of specialists who can address both the eye and skin/hair aspects of the condition.
Also known as:
Key symptoms:
Progressive vision lossThinning of the blood vessel layer at the back of the eye (choroidal atrophy)Hair loss or thinning (alopecia)Difficulty seeing in dim light or at nightReduced sharpness of visionPatchy or widespread baldnessPossible sensitivity to light
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Choroidal atrophy-alopecia syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Choroidal atrophy-alopecia syndrome.
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 Choroidal atrophy-alopecia syndrome.
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 quickly might the vision loss progress in my case or my child's case?,Are there any treatments or clinical trials that could help slow the eye changes?,What low-vision aids or tools would you recommend right now?,Should we pursue genetic testing, and what might it tell us?,What accommodations should we request at school or work?,Are there other family members who should be evaluated?,Can you refer us to a genetic counselor to discuss family planning?
Common questions about Choroidal atrophy-alopecia syndrome
What is Choroidal atrophy-alopecia syndrome?
Choroidal atrophy-alopecia syndrome is an extremely rare genetic condition that affects both the eyes and the hair. The name describes its two main features: choroidal atrophy, which is a thinning or breakdown of the choroid (the layer of blood vessels at the back of the eye that nourishes the retina), and alopecia, which means hair loss. People with this syndrome typically experience progressive vision problems due to the deterioration of the choroid layer, which can lead to significant visual impairment over time. The hair loss can range from patchy to more widespread and may begin early in
How is Choroidal atrophy-alopecia syndrome inherited?
Choroidal atrophy-alopecia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Choroidal atrophy-alopecia syndrome typically begin?
Typical onset of Choroidal atrophy-alopecia syndrome is childhood. Age of onset can vary across affected individuals.