Living with Oculocutaneous albinism type 4
A form of albinism with lighter skin, hair, and eyes, and vision differences including misrouted optic nerves.
Understanding Oculocutaneous albinism type 4
The skin and hair have less color than usual. Eye changes can include optic nerves that cross abnormally at the base of the brain (misrouting). 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:
- Lighter skin and white or lightened hair
- Less sharp vision
- Quick, involuntary eye movements (nystagmus)
- Sensitivity to light (photophobia)
- Misrouted optic nerves
- Light eye 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 SLC45A2 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 SLC45A2 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, oculocutaneous, type iv; oca4; oculocutaneous albinism caused by mutation in slc45a2; slc45a2 oculocutaneous albinism
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Oculocutaneous albinism type 4 · 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 4.
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