Living with Tyrosinase-positive oculocutaneous albinism
A genetic condition (oculocutaneous albinism type 2) with light skin and hair and reduced color in the eyes, causing vision problems.
Understanding Tyrosinase-positive oculocutaneous albinism
People usually have very fair skin and white or light hair. The iris and the retina have less color. Vision problems are usual, such as reduced sharpness, quick eye movements (nystagmus), crossed eyes, and light sensitivity. Long sun exposure raises the risk of skin damage and skin cancers, including melanoma.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very fair skin and light hair
- Reduced sharpness of vision
- Quick, rhythmic eye movements (nystagmus)
- Strong sensitivity to light (photophobia)
- Light-colored irises
- Freckling
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.
- 3Consider genetic testing
Changes in OCA2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
This condition is caused by changes in the OCA2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: albinism ii; albinism, oculocutaneous, type ii; albinism, oculocutaneous, type ii, modifier of; albinoidism; oca2; oca2 - tyrosinase-positive oculocutaneous albinism
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Tyrosinase-positive oculocutaneous albinism · United States
- The Vision of Children FoundationTyrosinase-positive oculocutaneous albinism · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tyrosinase-positive oculocutaneous albinism.
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