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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Coats disease


Other Names for this Disease

  • Retinal telangiectasis
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Cause

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What causes Coats disease?

The exact cause of Coats disease is not currently known. However, it is a reported feature of several different genetic syndromes, suggesting there may be a genetic component.[4716] Researchers believe that some cases of Coats disease may be due to somatic mutations in the NDP gene, which lead to deficient levels of a protein called norrin in the developing retina.[1] A somatic mutation in this case is one that is acquired after conception (i.e. it was not inherited from a parent and cannot be passed on to an affected person's children).
Last updated: 12/15/2014

References
  1. Coats Disease. OMIM. May 2013; http://omim.org/entry/300216.
  2. Del Longo A. Coats disease. Orphanet Encyclopedia. September 2004; http://www.orpha.net/data/patho/Pro/en/Coats-FRenPro1645.pdf.


Other Names for this Disease
  • Retinal telangiectasis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.