Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Inheritance

Newline Maker

How is ocular albinism type 1 inherited? Are males or females more likely to be affected?

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

References
  1. Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.
  2. 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.


Other Names for this Disease
  • Nettleship-Falls type ocular albinism
  • OA1
  • X-linked ocular albinism
  • X-linked recessive ocular albinism
  • XLOA
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.