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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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Tests & Diagnosis

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Is genetic testing available for Coats disease?

Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members.[1]

Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1.[2][3][1] Genetic testing is often an option for people affected by one of these conditions.
Last updated: 12/15/2014

How is Coats disease diagnosed?

A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.[1][4]
Last updated: 12/15/2014

References
  1. Del Longo A. Coats disease. Orphanet Encyclopedia. September 2004; http://www.orpha.net/data/patho/Pro/en/Coats-FRenPro1645.pdf.
  2. Senior Loken Syndrome. Genetics Home Reference. June 2012; http://ghr.nlm.nih.gov/condition/senior-loken-syndrome.
  3. Coats Plus Syndrome. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition/coats-plus-syndrome.
  4. Coats Disease. NORD. October 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/837/viewFullReport.


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.