Other Names for this Disease
- Retinal telangiectasis
- Congenital retinal telangiectasia
- Leber miliary aneurysm
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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. 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. 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
- Coats Disease. OMIM. May 2013; http://omim.org/entry/300216.
- Del Longo A. Coats disease. Orphanet Encyclopedia. September 2004; http://www.orpha.net/data/patho/Pro/en/Coats-FRenPro1645.pdf.