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Ocular 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 Ocular Albinism

  • Nettleship-Falls ocular albinism
  • OA1
  • ocular albinism type 1
  • X-linked ocular albinism
  • XLOA

Disorder Subdivisions

  • X-linked congenital nystagmus 6 (NYS6)

General Discussion

Ocular albinism type 1 (OA1), or X-linked ocular albinism, is the most common form of ocular albinism. Ocular albinism is a genetic disorder characterized by vision abnormalities in affected males. Vision deficits are present at birth and do not become more severe over time. Affected individuals have normal skin and hair pigmentation. Ocular albinism is inherited as an X-linked recessive genetic condition and caused by mutations in the G protein-coupled receptor 143 (GPR143) gene.

Ocular Albinism Resources

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