A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene

Background Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production. OCA type 1 (OCA1) is the most serious and common type of OCA. This study characterized mutations associated with OCA1 in a series of Chinese patients.