Ocular albinism type 1
Other Names for this Disease
- Nettleship-Falls type ocular albinism
- 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 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.
Last updated: 6/27/2013
- 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.