Oculocutaneous albinism.
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.
Okulicz
J F
JF
Department of Dermatology and Paediatrics, New Jersey Medical School, Newark, New Jersey 07103-2714, USA.
Shah
R S
RS
Schwartz
R A
RA
Janniger
C K
CK
D016115:Albinism, Oculocutaneous / Q000145:classification / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D006801:Humans