Overview
Oculocutaneous albinism type 6 (OCA6) 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 SLC24A5 gene, which plays an important role in producing melanin — the pigment that gives color to your skin, hair, and eyes. People with OCA6 typically have lighter skin and hair than expected for their family background, along with eye problems related to reduced pigment in the eyes. The eye-related symptoms are often the most significant part of this condition. People with OCA6 commonly experience reduced visual sharpness (visual acuity), sensitivity to bright light (photophobia), and involuntary back-and-forth eye movements (nystagmus). The colored part of the eye (iris) may appear lighter than expected and may allow light to pass through it (iris transillumination). The development of the eye's nerve connections to the brain may also be affected, which can contribute to vision problems. There is currently no cure for OCA6. Treatment focuses on managing symptoms, particularly protecting the skin from sun damage and addressing vision problems. Sunscreen, protective clothing, and sunglasses are important for skin and eye protection. Corrective lenses and low-vision aids can help with visual difficulties. Regular monitoring by eye specialists and dermatologists is recommended throughout life.
Also known as:
Key symptoms:
Lighter skin than expected for family backgroundLighter hair color than expectedLight-colored eyesSensitivity to bright light (photophobia)Involuntary eye movements (nystagmus)Reduced vision or poor visual sharpnessIris that lets light pass through (iris transillumination)Misrouting of eye nerve connectionsIncreased risk of sunburnIncreased risk of skin cancer from sun exposureDifficulty seeing in bright environmentsReduced depth perception
Clinical phenotype terms (7)— 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)
Treatments
No FDA-approved treatments are currently listed for Oculocutaneous albinism type 6.
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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 6.
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.What is my child's current level of visual acuity, and what aids might help?,How often should we schedule eye exams and skin checks?,What type of sunscreen and sun protection is best for this condition?,Are there educational accommodations or services we should request at school?,Should other family members be tested to see if they are carriers?,Are there any clinical trials or new treatments being studied for this type of albinism?,What signs of skin cancer should we watch for, and when should we seek urgent care?
Common questions about Oculocutaneous albinism type 6
What is Oculocutaneous albinism type 6?
Oculocutaneous albinism type 6 (OCA6) 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 SLC24A5 gene, which plays an important role in producing melanin — the pigment that gives color to your skin, hair, and eyes. People with OCA6 typically have lighter skin and hair than expected for their family background, along with eye problems related to reduced pigment in the eyes. The eye-related symptoms are often the most significant part of this condition. People with OCA6 commonly experience reduced v
How is Oculocutaneous albinism type 6 inherited?
Oculocutaneous albinism type 6 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oculocutaneous albinism type 6 typically begin?
Typical onset of Oculocutaneous albinism type 6 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Oculocutaneous albinism type 6?
7 specialists and care centers treating Oculocutaneous albinism type 6 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.