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Disease Profile

Heterochromia iridis

Prevalence
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.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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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.

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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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.

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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.

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Not applicable

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Other names (AKA)

Asymmetry in the pigmentation of the irides; Pigmentary abnormality of the anterior segment of the eye

Categories

Congenital and Genetic Diseases

Summary

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]

Symptoms

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
Learn More:
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

Cause

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]

Learn more

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

References

  1. Ur Rehman H. Heterochromia. Canadian Medical Association Journal. 2008; 179:447-448. https://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; https://www.ncbi.nlm.nih.gov/pubmed/?term=21176045. Accessed 7/5/2013.
  3. Waardenburg syndrome. Genetics Home Reference. October 2012; https://ghr.nlm.nih.gov/condition/waardenburg-syndrome.

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