Oculocutaneous Albinism

Summarized by Plex Health
Last Updated: 02 May 2022
maple syrup urine disease and oculocutaneous albinism in twins. "maple syrup urine disease and oculocutaneous albinism in twins.", by Nagabushana D, Benakappa A. F1: Picture of twins with the one on the left having oculocutaneous albinism...

Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. People affected by oculocutaneous albinism have very light skin and light-colored irises; they might have vision issues such as decreased sharpness of vision, fast eye motions, crossed eyes, or increased sensitivity to light. All types of oculocutaneous albinism are brought on by genetics mutations that are inherited in an autosomal recessive manner. Individuals with oculocutaneous albinism ought to have annual skin assessments to inspect for skin damage or skin cancer and annual eye evaluation to examine vision. Added therapies or surgical treatment may be used to treat gone across eyes or quick eye motions. Long-term sunlight exposure substantially increases the risk of skin damages and skin cancers, consisting of an aggressive form of skin cancer called cancer malignancy, in people with this problem. Type 2 is generally less severe than type 1; the skin is usually a creamy white shade and hair may be light yellow, blonde, or light brown. Type 3 is usually connected with milder vision problems than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms comparable to those seen with type 2. People with OCA2 have a vast array of skin pigmentation that is partly depending on their genetic background and the mutations present. Hair shade is usually not completely white and there can be some pigment present in the skin yet skin color is usually lighter than in unaffected family members. A reduction in skin pigment is apparent in Africans and African-Americans however skin coloration appears close to normal in other populations with normally lighter coloring yet affected individuals do not tan. Brownish OCA is a type of OCA2 where hair and skin coloration is darker.

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