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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ocular albinism type 1


Other Names for this Disease
  • Nettleship-Falls type ocular albinism
  • OA1
  • X-linked ocular albinism
  • X-linked recessive ocular albinism
  • XLOA
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Cause


Newline Maker

What causes ocular albinism type 1?

Ocular albinism type 1 is caused by mutations in the GPR143 gene.[1] This gene provides instructions for making a protein that plays a role in pigmentation (coloring) of the eyes and skin. It helps control the growth of melanosomes, which are structures inside the cells that make and store a pigment called melanin. Melanin also plays a role in vision in the retina. Mutations in the GPR143 gene can affect the protein's ability to do its job. As a result, melanosomes in skin and retinal cell can grow abnormally large, contributing to the signs and symptoms of the condition.[2]
Last updated: 6/27/2013

References
  1. Gail Summers. X-linked recessive ocular albinism. Orphanet. April 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54. Accessed 6/27/2013.
  2. Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.