Overview
Oculocutaneous albinism type 5 (OCA5) is a very rare inherited condition that affects the coloring (pigmentation) of the skin, hair, and eyes. People with OCA5 are born with little or no melanin, the natural pigment that gives color to these parts of the body. As a result, individuals typically have very light or white hair, pale skin, and light-colored eyes. The reduced pigment in the eyes leads to significant vision problems, including reduced sharpness of vision (visual acuity), involuntary eye movements (nystagmus), and increased sensitivity to bright light (photophobia). The eyes may also show misrouting of the optic nerves, which is a hallmark of all forms of oculocutaneous albinism. OCA5 was first described in a consanguineous Pakistani family and is caused by changes in a region on chromosome 4q24. It is one of the rarest subtypes of oculocutaneous albinism. Because melanin also plays a role in protecting the skin from ultraviolet (UV) radiation, people with OCA5 have a significantly increased risk of sunburn and skin cancer. There is currently no cure for OCA5. 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. Genetic counseling is recommended for affected families.
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 cancerDifficulty seeing fine detailsReduced 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 5.
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Specialists
View all specialists →No specialists are currently listed for Oculocutaneous albinism type 5.
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 5.
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 type of albinism does my child have, and how was it confirmed?,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 measures are most important for my child?,Are there any clinical trials or new treatments being studied for albinism?,What school accommodations should we request for my child's vision needs?,Should other family members be tested, and what is the chance of having another child with this condition?
Common questions about Oculocutaneous albinism type 5
What is Oculocutaneous albinism type 5?
Oculocutaneous albinism type 5 (OCA5) is a very rare inherited condition that affects the coloring (pigmentation) of the skin, hair, and eyes. People with OCA5 are born with little or no melanin, the natural pigment that gives color to these parts of the body. As a result, individuals typically have very light or white hair, pale skin, and light-colored eyes. The reduced pigment in the eyes leads to significant vision problems, including reduced sharpness of vision (visual acuity), involuntary eye movements (nystagmus), and increased sensitivity to bright light (photophobia). The eyes may also
How is Oculocutaneous albinism type 5 inherited?
Oculocutaneous albinism type 5 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oculocutaneous albinism type 5 typically begin?
Typical onset of Oculocutaneous albinism type 5 is neonatal. Age of onset can vary across affected individuals.