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Oculocutaneous Albinism

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to William S. Oetting, PhD, School of Pharmacy, Experimental and Clinical Pharmacology and Institute of Human Genetics, University of Minnesota, for assistance in the preparation of this report.

Synonyms of Oculocutaneous Albinism

  • brown oculocutaneous albinism
  • minimal pigment oculocutaneous albinism
  • OCA1
  • OCA1A
  • OCA1B
  • OCA3
  • OCA4
  • oculocutaneous albinism type 1B
  • platinum oculocutaneous albinism
  • rufous oculocutaneous albinism
  • temperature-sensitive oculocutaneous albinism
  • tyrosinase-negative oculocutaneous albinism
  • tyrosinase-negative oculocutaneous albinism
  • tyrosinase-related OCA
  • yellow oculocutaneous albinism

Disorder Subdivisions

  • oculocutaneous albinism type 1A
  • oculocutaneous albinism type 1B
  • oculocutaneous albinism type 2
  • oculocutaneous albinism type 3
  • oculocutaneous albinism type 4

General Discussion

Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes. Absent or insufficient melanin pigment results abnormal development in the eyes resulting in vision abnormalities and light skin that is very susceptible to damage from the sun including skin cancer. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition.

Oculocutaneous Albinism Resources

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