Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Retinal telangiectasis; Leber miliary aneurysm
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
Coats disease is an
Early signs and symptoms may include loss of vision, misalignment of the eyes (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormal retinal vascular morphology||
Abnormality of retina blood vessels
[ more ]
|30%-79% of people have these symptoms|
|Abnormal macular morphology||0001103|
|5%-29% of people have these symptoms|
|Abnormal anterior chamber morphology||0000593|
|Aplasia/Hypoplasia of the iris||
[ more ]
Clouding of the lens of the eye
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Exudative retinal detachment||0012231|
Coats disease has been reported as one feature of several genetic
- Laser photocoagulation (uses a laser to shrink or destroy blood vessels)
- Cryotherapy (a procedure that uses extreme cold to destroy abnormal blood vessels)
- Intravitreal corticosteroid injections to control inflammation
- Anti-vascular endothelial growth factor (anti-VEGF) injections
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Retinoblastoma (see this term) is the most important differential diagnosis. B-scan ultrasound and MRI with gadolinium contrast aid in distinguishing between late stage CD and solid tumors. Others include familial exudative vitreoretinopathy, Von Hippel-Lindau disease, intermediate uveitis and incontinentia pigmenti which are more often bilateral, as well as the more typically unilateral conditions such as ocular toxocariasis and persistent hyperplastic primary vitreous (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Coats disease. Click on the link to view a sample search on this topic.
- Coats Disease. NORD. 2017; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/837/viewFullReport.
- Hubbard B, Laird P. Coats disease. Orphanet. July, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=190.
- Del Longo A. Coats disease. Orphanet Encyclopedia. September 2004; https://www.orpha.net/data/patho/Pro/en/Coats-FRenPro1645.pdf.
- Coats Plus Syndrome. Genetics Home Reference. April 2014; https://ghr.nlm.nih.gov/condition/coats-plus-syndrome.
- Cebeci Z, Bayraktar S, Yilmaz YC, Tuncer S, Kir N. Evaluation of Follow-Up and Treatment Results in Coats' Disease. Turk J Ophthalmol. October, 2016; 46(5):226-231. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5200835/.
- 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.