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GTR Home > Conditions/Phenotypes > Tyrosinase-negative oculocutaneous albinism

Tyrosinase-negative oculocutaneous albinism

Synonyms
Albinism, oculocutaneous, type IA; Oculocutaneous albinism type 1A
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.\n\nOculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).\n\nOculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. \n\nThere are several additional, rare types of oculocutaneous albinism. [from MedlinePlus Genetics]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3, TYR
    Summary: tyrosinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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