What is the definition of Oculocutaneous Albinism Type 2?
Oculocutaneous albinism type 2 is a genetic condition that affects the 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. This condition 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; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.
What are the alternative names for Oculocutaneous Albinism Type 2?
- Oculocutaneous albinism tyrosinase positive
- Albinism 2
- Albinism, oculocutaneous, type 2
- Tyrosinase-positive oculocutaneous albinism