Other Names for this Disease
- Retinal telangiectasis
What are the signs and symptoms of Coats disease?
What causes Coats disease?
How is Coats disease inherited?
Is genetic testing available for Coats disease?
How is Coats disease diagnosed?
How might Coats disease be treated?
What is the long-term outlook for people with Coats disease?
Early signs and symptoms may include loss of vision, crossed eyes (strabismus), and/or the development of a white mass in the pupil behind the lens of the eye (leukocoria). As the disease progresses, affected people may develop glaucoma; cataracts; reddish discoloration in the iris (rubeosis iridis or neovascular glaucoma); shrinking of the affected eyeball (phthisis bulbi); and/or swelling and irritation of the middle layer of the eye (uveitis). The majority of affected people eventually experience profound vision loss and retinal detachment.
In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members.
Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in people with Senior-Loken syndrome and is a key symptom of a condition called Coats plus syndrome, which is characterized by Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Both of these conditions are inherited in an autosomal recessive manner.
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. Genetic testing is often an option for people affected by one of these conditions.
More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.
When Coats disease is first diagnosed in older children and young adults, it tends to be less aggressive. In some older children and young adults, spontaneous regression (improvement of symptoms) has been reported. If macular exudation (escape of fluid, cells, and cellular debris from blood vessels) and extensive retinal detachment (such as in stages 1 and 2A) are not present at diagnosis, a good visual outcome can be expected. However, the presence of thick foveal (a small area in the retina responsible for the acute vision) exudation (stage 2B disease and above) is usually associated with a worse prognosis. Most experts agree that visual prognosis is poor in people with total retinal detachment (stage 3B and above), which is usually characterized by little to no useful vision in the affected eye despite treatment. Younger children typically have more aggressive disease and often have a total retinal detachment by the time they are diagnosed; these children usually have a poor visual outcome.
- Coats Disease. NORD. October 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/837/viewFullReport.
- Del Longo A. Coats disease. Orphanet Encyclopedia. September 2004; http://www.orpha.net/data/patho/Pro/en/Coats-FRenPro1645.pdf.
- 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.
- Coats Disease. OMIM. May 2013; http://omim.org/entry/300216.
- Senior Loken Syndrome. Genetics Home Reference. June 2012; http://ghr.nlm.nih.gov/condition/senior-loken-syndrome.
- Coats Plus Syndrome. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition/coats-plus-syndrome.
- Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and management of Coats disease: the 2000 Proctor Lecture. American Journal of Ophthalmology. May 2001; 131(5):572-583.