Living with Oculocutaneous albinism type 1
An inherited condition with very fair skin, white hair, light-colored eyes, and reduced vision.
Understanding Oculocutaneous albinism type 1
Signs include very fair skin, white hair, light-colored irises, less sharp vision, quick involuntary eye movements (nystagmus), and light sensitivity. Skin is at higher risk of damage from sun exposure. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very fair skin and white hair
- Light eye color (iris hypopigmentation)
- Less sharp vision
- Quick, involuntary eye movements (nystagmus)
- Sensitivity to light (photophobia)
- Lazy eye (amblyopia) and crossed eyes
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
Changes in the TYR gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: albinism 1; albinism i; oca1; tyr-gene related oculocutaneous albinism type 1
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Oculocutaneous albinism type 1 · United States
- The Vision of Children FoundationOculocutaneous albinism type 1 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculocutaneous albinism type 1.
Explore research for Oculocutaneous albinism type 1
Explore actively recruiting Oculocutaneous albinism type 1 studies with HealthSpark.
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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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