Overview
Oculocutaneous albinism type 7 (OCA7) 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 LRMDA gene (also known as C10orf11). People with OCA7 are born with reduced or absent melanin, the pigment that gives color to skin, hair, and eyes. This means they typically have very light skin, white or light-colored hair, and light-colored eyes. Because melanin plays an important role in the development of the eyes, people with OCA7 also experience significant vision problems. These eye issues can include reduced sharpness of vision, involuntary eye movements (nystagmus), sensitivity to bright light (photophobia), and misrouting of the nerve signals from the eyes to the brain. OCA7 was first described in families from the Faroe Islands and Lithuania. Like other forms of oculocutaneous albinism, there is currently no cure for OCA7. Treatment focuses on managing symptoms, particularly protecting the skin from sun damage to reduce the risk of sunburn and skin cancer, and addressing vision problems with corrective lenses, low-vision aids, and regular eye exams. Genetic counseling is recommended for affected families. While the condition is lifelong, people with OCA7 can lead full and productive lives with appropriate care and support.
Also known as:
Key symptoms:
Very light or white hair from birthVery pale skinLight-colored eyes (blue, gray, or light brown)Reduced vision or poor eyesightInvoluntary back-and-forth eye movements (nystagmus)Sensitivity to bright light (photophobia)Eyes that do not align properly (strabismus)Increased risk of sunburnIncreased risk of skin cancer with sun exposureReduced depth perceptionFoveal hypoplasia (underdevelopment of the 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 Oculocutaneous albinism type 7.
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Specialists
View all specialists →No specialists are currently listed for Oculocutaneous albinism type 7.
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 7.
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 specific gene change was found, and what does it mean for my child's condition?,How severe is the vision impairment, and what low-vision aids would you recommend?,How often should we schedule eye exams and skin cancer screenings?,What sun protection strategies are most effective for this condition?,Are there any clinical trials or new treatments being studied for this type of albinism?,Should other family members be tested to see if they are carriers?,What school accommodations should we request for our child?
Common questions about Oculocutaneous albinism type 7
What is Oculocutaneous albinism type 7?
Oculocutaneous albinism type 7 (OCA7) 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 LRMDA gene (also known as C10orf11). People with OCA7 are born with reduced or absent melanin, the pigment that gives color to skin, hair, and eyes. This means they typically have very light skin, white or light-colored hair, and light-colored eyes. Because melanin plays an important role in the development of the eyes, people with OCA7 also experience significant vision problems. These eye issues can include r
How is Oculocutaneous albinism type 7 inherited?
Oculocutaneous albinism type 7 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oculocutaneous albinism type 7 typically begin?
Typical onset of Oculocutaneous albinism type 7 is neonatal. Age of onset can vary across affected individuals.