Overview
Ocular albinism is a genetic condition that mainly affects the eyes, causing reduced pigment (color) in the iris and retina. Unlike other forms of albinism that affect the skin and hair, people with ocular albinism usually have normal or near-normal skin and hair coloring. The condition is also sometimes called ocular albinism type 1 (OA1) or Nettleship-Falls ocular albinism. The main symptoms involve vision problems. People with ocular albinism typically have reduced visual sharpness (visual acuity), involuntary eye movements called nystagmus, and sensitivity to bright light (photophobia). The iris may appear translucent or lighter than expected, and the retina at the back of the eye lacks its normal pigmentation. Many individuals also have problems with depth perception and may have crossed eyes (strabismus). These vision issues occur because the lack of pigment in the retina disrupts normal development of the nerve connections between the eyes and the brain. There is currently no cure for ocular albinism, and treatment focuses on managing vision problems. Corrective lenses, tinted glasses or contact lenses to reduce light sensitivity, and sometimes surgery for strabismus can help improve quality of life. Low-vision aids and educational accommodations are also important, especially for children. With proper support, most people with ocular albinism lead full and active lives.
Key symptoms:
Reduced vision or poor visual sharpnessInvoluntary rapid eye movements (nystagmus)Sensitivity to bright light (photophobia)Reduced pigment in the iris, making it appear translucentReduced pigment in the retinaCrossed eyes or misaligned eyes (strabismus)Poor depth perceptionDifficulty seeing fine detailsAbnormal routing of nerve signals from the eyes to the brainFoveal hypoplasia (underdeveloped central part of the retina)Color vision that is usually normal or mildly affected
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Ocular albinism.
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Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
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 Ocular albinism.
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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 is my child's current level of visual acuity, and is it expected to change over time?,What low-vision aids or assistive devices would you recommend for school or daily activities?,Should we pursue genetic testing to confirm the diagnosis and identify the specific mutation?,Are there any clinical trials or emerging treatments for ocular albinism?,What school accommodations should we request for our child?,Is surgery recommended for the strabismus, and what are the expected outcomes?,What are the chances of passing this condition to future children, and should other family members be tested?
Common questions about Ocular albinism
What is Ocular albinism?
Ocular albinism is a genetic condition that mainly affects the eyes, causing reduced pigment (color) in the iris and retina. Unlike other forms of albinism that affect the skin and hair, people with ocular albinism usually have normal or near-normal skin and hair coloring. The condition is also sometimes called ocular albinism type 1 (OA1) or Nettleship-Falls ocular albinism. The main symptoms involve vision problems. People with ocular albinism typically have reduced visual sharpness (visual acuity), involuntary eye movements called nystagmus, and sensitivity to bright light (photophobia). T
How is Ocular albinism inherited?
Ocular albinism follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ocular albinism typically begin?
Typical onset of Ocular albinism is infantile. Age of onset can vary across affected individuals.
Which specialists treat Ocular albinism?
25 specialists and care centers treating Ocular albinism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.