Ocular albinism type 1
Other Names for this Disease
- Nettleship-Falls type ocular albinism
- Ocular albinism, Nettleship-Falls type
- X-linked ocular albinism
- X-linked recessive ocular albinism
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Ocular albinism type 1 is caused by mutations in the GPR143 gene. This gene gives the body 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 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 cells can grow abnormally large, contributing to the signs and symptoms of the condition. In rare cases, the genetic cause of this condition is unknown.
Last updated: 8/6/2015
- 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.
- Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.