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Axenfeld-Rieger syndrome

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


Axenfeld-Rieger syndrome refers to a spectrum of developmental eye disorders. Common eye symptoms include cornea defects, iris defects, and glaucoma. About 50% of affected individuals become blind from glaucoma. Other associated developmental defects commonly involve the teeth and facial bones. [1][2][3][4][5]. Click here to view a diagram of the eye.

There are three types of Axenfeld-Rieger syndrome, which are distinguished by their genetic cause. Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene and Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene.[5][6] The gene that causes Axenfeld-Rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13.[7] Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.[5][6][7]


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. Inci Irak-Dersu. Glaucoma, Secondary Congenital. eMedicine. http://www.emedicine.com/oph/topic141.htm. Accessed April 11, 2011.
  5. Axenfeld-Rieger syndrome type 1. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/180500. Accessed April 11, 2011.
  6. Axenfeld-Rieger syndrome type 3. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/602482 . Accessed April 11, 2011.
  7. Axenfeld-Rieger syndrome type 2. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/601499. Accessed April 11, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Axenfeld-Rieger syndrome. Click on the link to go to GHR and review the information.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Axenfeld-Rieger syndrome. Click on the link to go to OMIM and review these resources.