Overview
Oculocutaneous albinism type 1 (OCA1) is a genetic condition that affects the production of melanin, the pigment that gives color to your skin, hair, and eyes. It is caused by changes (mutations) in the TYR gene, which provides instructions for making an enzyme called tyrosinase. This enzyme is essential for producing melanin. OCA1 is sometimes called tyrosinase-related albinism. There are two subtypes of OCA1. In OCA1A, the tyrosinase enzyme is completely inactive, resulting in a complete absence of melanin throughout life. People with OCA1A typically have white hair, very pale skin, and light blue or translucent irises. In OCA1B (also called yellow albinism), the enzyme has some residual activity, so a small amount of pigment may develop over time, especially in the hair, which may darken to a yellow or light brown shade. The lack of melanin causes significant vision problems, including reduced visual sharpness (low vision), sensitivity to bright light (photophobia), involuntary eye movements (nystagmus), and misrouting of the optic nerves. The skin is also highly vulnerable to sun damage and skin cancer. There is currently no cure for OCA1, but treatment focuses on protecting the skin and eyes, correcting vision as much as possible, and monitoring for skin cancers. With proper sun protection and regular medical care, people with OCA1 can lead full and active lives.
Also known as:
Key symptoms:
Very light or white hair from birthVery pale skin that does not tanLight blue, gray, or translucent eye colorReduced vision or low visual acuitySensitivity to bright light (photophobia)Involuntary rapid eye movements (nystagmus)Crossed eyes or misaligned eyes (strabismus)Severe sunburn with minimal sun exposureIncreased risk of skin cancerDifficulty seeing fine details or reading small printPoor depth perceptionFreckles or sun spots in OCA1B subtype with some pigment development
Clinical phenotype terms (21)— hover any for plain English
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)
FDA & Trial Timeline
1 eventWest China Hospital — EARLY_PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Oculocutaneous albinism type 1.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 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
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.Does my child have OCA1A (no pigment) or OCA1B (some residual pigment), and how does this affect what to expect?,How often should we schedule eye exams and skin cancer screenings?,What specific sun protection measures do you recommend for our daily routine?,What low-vision aids or assistive devices would be most helpful for school or work?,Are there any clinical trials or emerging treatments we should know about?,Should other family members be tested to find out if they are carriers?,What educational accommodations should we request for school?
Common questions about Oculocutaneous albinism type 1
What is Oculocutaneous albinism type 1?
Oculocutaneous albinism type 1 (OCA1) is a genetic condition that affects the production of melanin, the pigment that gives color to your skin, hair, and eyes. It is caused by changes (mutations) in the TYR gene, which provides instructions for making an enzyme called tyrosinase. This enzyme is essential for producing melanin. OCA1 is sometimes called tyrosinase-related albinism. There are two subtypes of OCA1. In OCA1A, the tyrosinase enzyme is completely inactive, resulting in a complete absence of melanin throughout life. People with OCA1A typically have white hair, very pale skin, and lig
How is Oculocutaneous albinism type 1 inherited?
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 Oculocutaneous albinism type 1 typically begin?
Typical onset of Oculocutaneous albinism type 1 is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Oculocutaneous albinism type 1?
Yes — 1 recruiting clinical trial is currently listed for Oculocutaneous albinism type 1 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Oculocutaneous albinism type 1?
4 specialists and care centers treating Oculocutaneous albinism type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.