title: The clinical spectrum of albinism in humans.
abstract: Oculocutaneous albinism is characterized by a congenital reduction or absence of melanin pigment in the skin, hair and eyes. The reduction in the hair and skin results in a change in color but no change in the development or function of these tissues, while the absence of melanin pigment in the eye leads to abnormal development and function. Of particular interest are mutations that are associated with a slow accumulation of pigment in the hair and eyes over time, while retaining the ocular defects of albinism. Analysis of these mutations might provide the insight that we need to understand the interaction between the pigment system and the development of the optic system.
authors.affiliation: Department of Medicine, University of Minnesota, Minneapolis 55455, USA. bill@lenti.med.umn.edu
authors.forename: W S
authors.initials: WS
authors.lastname: Oetting
authors.forename: M H
authors.initials: MH
authors.lastname: Brilliant
authors.forename: R A
authors.initials: RA
authors.lastname: King
mesh_terms: D016115:Albinism, Oculocutaneous / Q000145:classification / Q000235:genetics* / Q000378:metabolism*; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics; D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D008543:Melanins / Q000096:biosynthesis; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins; D014442:Monophenol Monooxygenase / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D014960:X Chromosome
chemical_list: D002352:Carrier Proteins; D008543:Melanins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014442:Monophenol Monooxygenase