GTR Home > Conditions/Phenotypes > Oculocutaneous albinism type 3

Summary

Oculocutaneous albinism is a group of conditions that affect coloring (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. Oculocutaneous 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); and increased sensitivity to light (photophobia). The four types of oculocutaneous albinism are designated as type 1 (OCA1) through type 4 (OCA4). 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 ... a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have 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 with type 2. Because their features overlap, the four types of oculocutaneous albinism are most accurately distinguished by their genetic cause. [from GHR] more

Available tests

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Associated genes

  • Also known as: RP11-3L8.1, CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN, TYRP1
    Summary: tyrosinase-related protein 1

Clinical features

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  • Freckling
  • Strabismus
  • Nystagmus
  • Cutaneous photosensitivity
  • Ocular albinism
  • Red hair
  • Partial albinism
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