National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Heterochromia iridis


Not a rare disease Not a rare disease
Other Names:
Asymmetry in the pigmentation of the irides; Pigmentary abnormality of the anterior segment of the eye
Categories:

Heterochromia iridis is characterized by color differences of the iris (the colored part of the eye), either between the eyes or within one eye. In people with complete heterochromia, the iris of one eye is a different color than the iris of the other eye. Segmental heterochromia occurs when areas of the same iris are different in color. Most cases of heterochromia iridis occur sporadically and are not associated with any other symptoms or problems. Rarely, heterochromia iridis is part of a congenital (present from birth) syndrome such as Waardenburg syndrome, Sturge-Weber syndrome, Parry-Romberg syndrome, or Horner's syndrome. Treatment for people with heterochromia iridis may only be needed if there is an underlying syndrome causing health problems.[1][2]
Last updated: 4/8/2015

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.

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Medical Terms Other Names
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HPO ID
Percent of people who have these symptoms is not available through HPO
Asymmetry of iris pigmentation 0200064
Autosomal dominant inheritance 0000006
Heterochromia iridis
Different colored eyes
0001100
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Last updated: 7/1/2020

Eye color is determined by the concentration and distribution of melanin (a pigment) in the iris. A variety of genetic and acquired (non-genetic) factors influence the final outcome and continued maintenence of the iris color.[2]

Most cases of heterochromia iridis occur sporadically and are not associated with any additional symptoms or health problems. Acquired factors that may lead to heterochromia iridis include:[1][2]
Rarely, heterochromia iridis may be part of a congenital (present from birth) syndrome, such as Waardenburg syndrome, Sturge-Weber syndrome, congenital Horner's syndrome, or Parry-Romberg syndrome. Waardenburg syndrome (due to mutations in many different genes) and Sturge-Weber syndrome (due to somatic mutations in the GNAQ gene) have genetic causes. The exact underlying cause of Horner's syndrome and Parry-Rombery syndrome is currently unknown. Later-onset cases of heterochromia iridis may be associated with a syndrome called Fuchs heterochromic iridocyclitis, which also has an unkown cause.[1][2]
Last updated: 4/8/2015

Most cases of heterochromia iridis occur sporadically in people with no family history of heterochromia iridis. However, heterochromia iridis rarely is part of an inherited genetic syndrome. For example, heterochromia iridis is reported in some people with Waardenburg syndrome, which is generally inherited in an autosomal dominant manner.[3][1][2]
Last updated: 4/8/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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.

Where to Start

  • The American Academy of Ophthalmology offers a summary on heterochromia, which includes a list of possible causes.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Heterochromia iridis. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles


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  1. Ur Rehman H. Heterochromia. Canadian Medical Association Journal. 2008; 179:447-448. http://www.ncbi.nlm.nih.gov/pubmed/18725617. Accessed 8/9/2011.
  2. Mackey DA, Wilkinson CH, Kearns LS, Hewitt AW. Classification of iris colour: review and refinement of a classification schema. Clin Experiment Ophthalmol. 2011 Jul;39(5):462-71; http://www.ncbi.nlm.nih.gov/pubmed/?term=21176045. Accessed 7/5/2013.
  3. Waardenburg syndrome. Genetics Home Reference. October 2012; http://ghr.nlm.nih.gov/condition/waardenburg-syndrome.