Living with Oculocutaneous albinism type 3
A form of albinism with reddish-brown skin, ginger or red hair, and often milder vision problems than other types.
Understanding Oculocutaneous albinism type 3
It includes a form called rufous oculocutaneous albinism, which usually affects dark-skinned people. They have reddish-brown skin, ginger or red hair, and hazel or brown irises. Vision problems are often milder than in other types. Long-term sun exposure raises the risk of skin damage. 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:
- Red hair
- Light eye color
- Quick, involuntary eye movements (nystagmus)
- Patchy lightened skin
- Freckling
- Lightened hair color
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 TYRP1 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
Changes in the TYRP1 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 iii; albinism, oculocutaneous, type iii; oca3; oculocutaneous albinism caused by mutation in tyrp1; red oculocutaneous albinism; red-skin albinism
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Oculocutaneous albinism type 3 · United States
- The Vision of Children FoundationOculocutaneous albinism type 3 · 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 3.
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