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Last updated: July 10, 2015
Years published: 1991, 1999, 2001, 2002, 2003, 2012, 2017
NORD gratefully acknowledges Arthur Fu, MD, Ophthalmologist, California Pacific Medical Center, and the Jack McGovern Coats Disease Foundation, for assistance in the preparation of this report.
Coats disease was first described in 1908 and is a rare disorder characterized by abnormal development of the blood vessels in the retina. The retina is a nerve-rich tissue lining the back of the eye that transmits light images to the brain, which allows a person to see. Therefore, affected individuals may experience loss of vision due to changes in the retina and, in severe cases, retinal detachment. In almost all people with Coats disease, only one eye is affected. Rarely, both eyes may be exhibit symptoms, however, one eye is often affected more than the other. The specific cause of Coats disease is not known.
Coats disease affects males more often than females in a ratio of 3:1. The disorder may occur at any age, but the majority of patients are diagnosed in the first two decades of life. Individuals affected with Coats disease may display few or no symptoms while others may have severe involvement. The most common features at presentation of Coats disease include loss of vision, misalignment of the eyes (strabismus), and/or the development of a white reflex rather than the normal red or orange color in the pupil when light is flashed into the pupil so that the pupil appears white (leukocoria).
Eye symptoms result from a developmental malformation, known as telangiectasia, of the blood vessels in the retina. Telangiectasia (tele equals far or end, angio means blood vessel, and ectasia refers to dilation) occurs when there is abnormal widening of groups of small blood vessels, resulting in the leakage of proteins and lipids from the blood. When this occurs in the retina, it is termed exudative retinopathy. This leakage can lead to retinal detachment and the other symptoms discussed above.
Over time, Coats disease may cause detachment of the retina and substantial loss of vision. Additional signs may appear as Coats disease progresses, including elevated pressure inside the eye (glaucoma), clouding of the lens of the eye (cataract), reddish discoloration in the iris due to the growth of new blood vessels in the iris (rubeosis iridis or neovascular glaucoma), shrinking of the affected eyeball (phthisis bulbi), and/or inflammation of eye (uveitis).
The specific cause of Coats disease is not known. One theory is that a mutation of the Norrie disease protein (NDP) gene leads to Coats disease. This gene is an attractive candidate because it has been shown to play a vital role in retinal blood vessel development. One study showed some promise for involvement of the NDP gene in Coats disease, however further studies have not been able to verify this hypothesis. In general, Coats disease is considered a non-genetic, non-heritable condition.
It is estimated that about 69% of those affected are male. The average age at diagnosis is 8-16 years, although the disease has been diagnosed in patients as young as 4 months. About two-thirds of juvenile cases present before age 10. Approximately one-third of patients are 30 years or older before symptoms begin.
A diagnosis of Coats disease is made based upon a thorough clinical ophthalmic evaluation, a detailed patient history, and specialized tests, including retinal fluorescein angiography, diagnostic echography, and in some cases computed tomography imaging of the orbits.
Treatment
The treatment of Coats disease is directed toward the specific signs present in each individual. A procedure that uses extreme cold to create a scar around the abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal blood vessels (photocoagulation) are used singly or in combination to treat Coats disease. In conjunction with these procedures, steroids or other medicines such as bevacizumab may be injected into the eye to control inflammation and leaking from blood vessels. Surgery to reattach the retina may also be necessary.
Genetic counseling is not necessary if the diagnosis is accurate since this is a non-genetic malformation and the recurrence risk is the same as the background rate in the general population.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, in the main, contact: www.centerwatch.com
For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/
RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease. For more information, visit www.rareconnect.org.
JOURNAL ARTICLES
Ghazi NG. Intravitreal triamcinolone in Coatsโ disease. Ophthalmology. 2012;119:648-9.
Othman IS, Moussa M, Bouhaimed M. Management of lipid exudates in Coats disease by adjuvant intravitreal triamcinolone: effects and complications. Br J Ophthalmol. 2010;94:606-10.
Jumper JM, et al. Macular fibrosis in Coats disease. Retina. 2010;30:S9-14.
Junge HJ, et al. TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. Cell. 2009;139:299-311.
Cakir M, Cekic O, Yilmaz OF. Combined intravitreal bevacizumab and triamcinolone injection in a child with Coats disease. J APPOS. 2008;12:309-11.
Wu WC, et al. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. Arch Ophthalmol. 2007;125:225-30.
Adam RS, Kertes PJ, Lam Wai-Ching. Observations on the management of Coatsโ disease: less is more. Br J Ophthalmol. 2007;91:303-6.
Shienbaum G, Tasman WS. Coats disease: a lifetime disease. Retina. 2006;26:422-4.
Smithen LM, et al. Coatsโ disease diagnosed in adulthood. Ophthalmology. 2005;112:1072-8.
Luhmann UF, et al. Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Invest Ophthalmol Vis Sci. 2005;46:3372-82.
Shields JA, et al. Classification and management of Coats disease: the 2000 Proctor Lecture. Am J Ophthalmol. 2001;131:572-83.
Shields JA, et al. Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol. 2001;131:561-71.
Char DH. Coatsโ syndrome: long term follow up. Br J Ophthalmol. 2000;84:37-9.
Black GC, et al. Coats disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum Mol Genet. 1999;8:2031-35.
Budning AS, et al. Visual prognosis of Coats disease. J AAPOS. 1998;2:356-9.
Haik BG. Advanced Coatsโ disease. Trans Am Ophthalmol Soc. 1991;89:371-476.
INTERNET
Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Coats Disease. Entry No: 300216. Last Update 05/16/2013.. Available at: https://omim.org/entry/300216 Accessed May 3, 2017.
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Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
View report
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