The clinical spectrum of albinism in humans

William S Oetting, Murray H. Brilliant, Richard A. King

Research output: Contribution to journalReview article

42 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)330-335
Number of pages6
JournalMolecular Medicine Today
Volume2
Issue number8
DOIs
StatePublished - Aug 1996

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