Oculocutaneous Albinism in Pakistan: A Review

Abstract

Oculocutaneous albinism (OCA) is an autosomal recessive disorder of abnormal melanin biosynthesis characterized by hypopigmentation of skin, hair and eyes. The patients with OCA have high risk of skin cancer, actinic injury and nystagmus. Oculocutaneous albinism is further classified into non-syndromic OCA and syndromic OCA. Autosomal recessive disorders like oculocutaneous albinism are more common in Pakistani population due to cousin marriages and large consanguineous families. This review paper includes updated data on the different research work done in Pakistani population on the four types OCA1, OCA2, OCA3 and OCA4 of oculocutaneous albinism and the mutations reported, also little information about the new forms OCA5, OCA6 and OCA7of oculocutaneous albinism.