Living with Oculocutaneous albinism
A group of inherited conditions that lighten the skin, hair, and eyes and cause vision problems.
Understanding Oculocutaneous albinism
People typically have very fair skin and white or light hair. Long-term sun exposure greatly raises the risk of skin damage and skin cancer. Vision problems are usual, including reduced sharpness, quick eye movements (nystagmus), eyes that don't line up, and light sensitivity. There are several types, distinguished by skin, hair, and eye color and by genetic cause. GARD lists onset as newborn.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Very fair skin and white or light-colored hair
- Higher risk of sun damage to the skin
- Less sharp vision
- Quick, involuntary eye movements (nystagmus)
- Eyes that don't look in the same direction (strabismus)
- Sensitivity to light (photophobia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The National Organization of Albinism and Hypopigmentation (NOAH) and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition, and the type depends on the gene involved. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: albinismus totalis; albinismus universalis; complete perfect albinism; complete universal albinism; non-syndromic oculocutaneous albinism; nonsyndromic oculocutaneous albinism
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Oculocutaneous albinism · United States
- The Vision of Children FoundationOculocutaneous albinism · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculocutaneous albinism.
Explore research for Oculocutaneous albinism
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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