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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, because it has been associated with different genetic syndromes, it has been thought to have a genetic component.[1] It has been suggested that some cases of Coats disease may be due to somatic mutations in the NDP gene, which may result in the deficiency of a protein called norrin in the developing retina.[2] A somatic mutation in this case is one that is acquired after an individual's conception (i.e. it was not inherited from a parent and cannot be passed on to an affected individual's children).
Last updated: 12/2/2011

References
  1. A. Del Longo. Coats disease. Orphanet. September 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=190. Accessed 12/2/2011.
  2. Jane Kelly. Coats disease. OMIM. November 8, 2007; http://omim.org/entry/300216. Accessed 12/2/2011.