Medico-genetics of oculocutaneous albinism; An updated study with Pakistani perspective

ABSTRACT

Albinism is a rare genetic disease associated with reduced melanin pigment biosynthesis in eyes, skin or hair. Clinically it is categorized, based on the affected tissue, into two types i.e ocular albinism [OA]; when hypopigmentation influence the retinal pigment epithelium leaving skin and hair unaffected, and oculocutaneous albinism [OCA]; when hypopigmentation occur in hair, skin and eye. Various genetic studies to date identified six genes [TYR, TYRP1, OCA2, SLC45A2, SLC24A5, C10orf11] and a locus [OCA5] for whom the candidate gene is yet to be known. All these reported genes, at the molecular level, are involved in melanin pigment biosynthesis. Among these reported genes, TYR and OCA2 are the most prevalent genetic factors of OCA in Pakistani population. The study will assist in understanding the molecular factors of OCA and melanin synthesis pathway to reduce its prevalence rate. The review aims to systematically reread and analyze the oculocutaneous albinism and its various types in the context of developed world as well as Pakistani community