Occulocutaneous Albinism

Occulocutaneous albinism

Overall estimation: 1 in 20000

Occulocutaneous albinism is a condition that mainly affects pigmentation of skin, hair, eyes. Affected individuals have very fair skin, light coloured hair with high risk of skin damage and are prone to even the most aggressive skin cancers like Melanoma.

Cause: Mutation in several genes including TYR, OCA2,TYRP1,SLC45A2 (gene responsible for producing melanin)
Occulocutaneous albinism is characterised as
Type I: whitish hair, paler skin, light coloured iris
Type II: creamy white coloured skin, light yellow or blon hair
Type III: usually affects dark skinned people. They posses reddish brown skin, red hair, brown iris.
Type IV: similar to type I

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