Overview
Temperature-sensitive oculocutaneous albinism type 1 (also called OCA1-TS or temperature-sensitive albinism) is a very rare inherited condition that affects the coloring (pigmentation) of the skin, hair, and eyes. It is caused by changes (mutations) in the TYR gene, which provides instructions for making an enzyme called tyrosinase. In this specific form, the tyrosinase enzyme works only at lower temperatures but loses its function at normal body temperature (around 37°C or 98.6°F). This means that cooler parts of the body, such as the arms and legs, may develop some pigment over time, while warmer areas like the scalp and underarms tend to remain very lightly pigmented or white. People with this condition are typically born with very light or white hair and very pale skin, similar to other forms of albinism. Their eyes usually have reduced pigment, which can cause vision problems including reduced visual sharpness, sensitivity to bright light (photophobia), and involuntary eye movements (nystagmus). Over time, especially during childhood and adolescence, hair on the arms and legs may darken somewhat, creating a distinctive pattern where body hair in cooler extremities is darker than hair on the warmer trunk and scalp. There is currently no cure for temperature-sensitive OCA1. Treatment focuses on managing symptoms, particularly protecting the skin from sun damage and addressing vision problems with corrective lenses, low-vision aids, and regular eye exams. Skin cancer surveillance is also important due to the reduced protective pigment in the skin.
Also known as:
Key symptoms:
Very light or white hair at birthVery pale skinLight-colored eyes (blue or gray)Darkening of hair on arms and legs over time while scalp hair stays whiteSensitivity to bright light (photophobia)Involuntary rapid eye movements (nystagmus)Reduced sharpness of visionCrossed eyes or misaligned eyes (strabismus)Increased risk of sunburnIncreased risk of skin cancerReduced depth perceptionFoveal hypoplasia (underdeveloped central part of the retina)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Temperature-sensitive oculocutaneous albinism type 1.
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Specialists
View all specialists →No specialists are currently listed for Temperature-sensitive oculocutaneous albinism type 1.
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 Temperature-sensitive oculocutaneous albinism type 1.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.What specific TYR gene mutations does my child have, and what does that mean for their condition?,How often should my child have eye exams and skin cancer screenings?,What low-vision aids or assistive devices would be most helpful for my child's level of vision?,Are there any clinical trials or new treatments being studied for this type of albinism?,What educational accommodations should I request for my child at school?,How can I best protect my child's skin from sun damage?,Should other family members be tested to see if they are carriers of this condition?
Common questions about Temperature-sensitive oculocutaneous albinism type 1
What is Temperature-sensitive oculocutaneous albinism type 1?
Temperature-sensitive oculocutaneous albinism type 1 (also called OCA1-TS or temperature-sensitive albinism) is a very rare inherited condition that affects the coloring (pigmentation) of the skin, hair, and eyes. It is caused by changes (mutations) in the TYR gene, which provides instructions for making an enzyme called tyrosinase. In this specific form, the tyrosinase enzyme works only at lower temperatures but loses its function at normal body temperature (around 37°C or 98.6°F). This means that cooler parts of the body, such as the arms and legs, may develop some pigment over time, while w
How is Temperature-sensitive oculocutaneous albinism type 1 inherited?
Temperature-sensitive oculocutaneous albinism type 1 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Temperature-sensitive oculocutaneous albinism type 1 typically begin?
Typical onset of Temperature-sensitive oculocutaneous albinism type 1 is neonatal. Age of onset can vary across affected individuals.