title: Oculocutaneous albinism.
abstract: Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.
authors.affiliation: Department of Dermatology and Paediatrics, New Jersey Medical School, Newark, New Jersey 07103-2714, USA.
authors.forename: J F
authors.initials: JF
authors.lastname: Okulicz
authors.forename: R S
authors.initials: RS
authors.lastname: Shah
authors.forename: R A
authors.initials: RA
authors.lastname: Schwartz
authors.forename: C K
authors.initials: CK
authors.lastname: Janniger
mesh_terms: D016115:Albinism, Oculocutaneous / Q000145:classification / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D006801:Humans