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 usually caused by mutation in the GPR143 gene. In these cases, the condition is passed through families in an “X-linked” pattern. In X-linked conditions males are more commonly affected than females. This is because males have only one X chromosome and therefore one copy of the GPR143 gene. Females have two X chromosomes and therefore two copies of the GPR143 gene. If females have a mutation in one of their GPR143 genes, they still have a second normal GPR143 gene to compensate. These women usually do not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination.
Occasionally females will have more significant signs and symptoms of ocular albinism type 1. This may be due to:
- A phenomenon called skewed X-chromosome inactivation
- Having inherited two mutations of the GPR143 gene
- Having a partial deletion of the X chromosome
To learn more about X inactivation please visit the following link. http://ghr.nlm.nih.gov/glossary=xchromosomeinactivation
Last updated: 3/31/2014
- Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.
- Rosenberg T, Schwartz M. Ocular Albinism, X-Linked . GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa. Accessed 7/24/2009.