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Diseases

Genetic and Rare Diseases Information Center (GARD)

Axenfeld-Rieger syndrome


Other Names for this Disease
  • Rieger syndrome
  • Iridogoniodysgenesis with somatic anomalies
  • Goniodysgenesis hypodontia
  • Axenfeld syndrome
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Overview

Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye.[1][2][3][4][5][6] 

Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects.[1][2][3][4][5][6]

There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 geneAxenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene.[5][7] The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13.[8] Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.[5][7][8][6]
Last updated: 1/3/2016

References

  1. JD Brandt. Congenital glaucoma. In: M Yanoff, JS Duker, JJ Augsburger, DT Azar, GR Diamond, JJ Dutton, D Miller, NA Rao, ES Rosen, AA Sadun, M Sherwood, J Sugar, JL Wiggs. Yanoff: Ophthalmology, 2nd ed.. St. Louis, MO: Mosby, Inc; 2004;
  2. Traboulsi EI. Malformations of the anterior segment of the eye. In: Traboulsi EI, ed. Genetic Diseases of the Eye. New York, NY. Oxford Publishing Press, Inc.; 1998:81-88..
  3. Traboulsi EI. A Compendium of Inherited Disorders and the Eye. New York, NY: Oxford University Press, Inc; 2006: 22-25..
  4. Irak-Dersu I. Secondary Congenital Glaucoma. Medscape. March 14, 2014; http://www.emedicine.com/oph/topic141.htm. Accessed 3/30/2015.
  5. Axenfeld-Rieger syndrome type 1. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/180500. Accessed 4/11/2011.
  6. Axenfeld-Rieger syndrome. Genetics Home Reference: June 2012; http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome. Accessed 12/28/2015.
  7. Axenfeld-Rieger syndrome type 3. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/602482 . Accessed 4/11/2011.
  8. Axenfeld-Rieger syndrome type 2. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/601499. Accessed 4/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Axenfeld-Rieger syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • EyeWiki is an eye encyclopedia written by eye physicians and surgeons that offers an information page on Axenfeld-Rieger syndrome. Please click the link to access this resource.
  • 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. 
    The Online Mendelian Inheritance in Man (OMIM)
    The Online Mendelian Inheritance in Man (OMIM)
  • 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 Axenfeld-Rieger syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Rieger syndrome
  • Iridogoniodysgenesis with somatic anomalies
  • Goniodysgenesis hypodontia
  • Axenfeld syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.