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Axenfeld-Rieger syndrome


Other Names for this Disease

  • Goniodysgenesis hypodontia
  • Iridogoniodysgenesis with somatic anomalies
  • Rieger 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.

Your Question

I have Axenfeld-Rieger syndrome.  My symptoms include dislocated pupils and very high astigmatism with a detaching lens. I recently learned that a flattened mid-face, missing teeth, and mid section anomalies are also symptoms of this disorder.  I would like to start a family; however I would first like to learn more about the chances of passing this on to my future children and the likelihood that their condition would be more serious than my own.  Also, the lens in one of my eyes is detaching and migrating away from my displaced pupil.  Is this a common effect of the disease? Can it be treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How can I learn about research involving Axenfeld-Rieger syndrome?

In addition, the U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. The National Eye Institute (NEI) at the National Institutes of Health in Bethesda, Maryland has completed two clinical trials that may be of interest to you. Through these studies, the researchers may have discovered information pertinent to your particular case. To read about these studies, visit the hyperlinks below. After you click on a study, review its information to determine if it provides you with useful information. Check this site often for regular updates.

Evaluation and Treatment of Pediatric, Developmenal, and Genetic Eye Diseases. NCT00076271

Screening for Studies on Inherited Eye Diseases. NCT00001732

Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens NCT00001161

To locate information resulting from these completed studies, you can either e-mail or call the National Library of Medicine (NLM) Customer Service. Include the title of the study and the ClinicalTrials.gov identifier, and a librarian at NLM can assist you in searching the medical literature for published results on the completed clinical trial.

National Library of Medicine Customer Service
Toll-free: 888-346-3656
E-mail: custserv@nlm.nih.gov 

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to provide your telephone number in full, including area code and international dialing prefix.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/
Last updated: 4/11/2011

What is Axenfeld-Rieger syndrome?

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]
Last updated: 4/11/2011

What are the signs and symptoms of Axenfeld-Rieger syndrome?

Eye symptoms of Axenfeld-Rieger syndrome include posterior embryotoxon, cloudy cornea, iris strands, abnormal location of the pupil, abnormal pupil margins, abnormally large or small pupils, multiple pupils, glaucoma, strabismus, cataract, macular degeneration, and coloboma.[1][4]

Developmental defects associated with Axenfeld-Rieger syndrome most commonly involve the teeth and facial bones. Symptoms involving the teeth include peg-like incisors, missing teeth, and abnormal spacing of teeth. Symptoms of the facial bones include underdevelopment of the upper jaw and protruding lower lip. Another common developmental defect is umbilical protrusion. Cases of wide spaced eyes and empty-sella syndrome have also been reported.[1][2][4]
Last updated: 4/11/2011

My lens is detaching and migrating away from my displaced pupil. Is this a common effect of Axenfeld-Rieger syndrome?

No. Dislocated lenses is rarely associated with Axenfeld-Rieger syndrome.[2]
Last updated: 4/11/2011

Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated?

We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye disorders. The American Association of Eye and Ear Hospitals provides a list of member clinics and the Eye Research Network provides a list of eye research facilities that may be helpful as you search for clinics. Click on the links to view the lists. Please note that the lists are not exhaustive of all specialty and research eye clinics within the United States or abroad.
Last updated: 4/11/2011

How is Axenfeld-Rieger syndrome inherited?

Axenfeld-Rieger syndrome is inherited in an autosomal dominant manner. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual only has to have one mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.

Each child of an individual with Axenfeld-Rieger syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Axenfeld-Rieger syndrome, although they could be more or less severely affected than their parent.
Last updated: 4/11/2011

What is the likelihood that a person with Axenfeld-Rieger syndrome would have a more severely affected child?

Currently, it is not possible to predict the likelihood that a parent with Axenfeld-Rieger syndrome would have a more severely affected child. However, we recommend contacting a genetic clinic to set up a consultation with a genetics professional.
Last updated: 4/11/2011

Is genetic testing available for Axenfeld Rieger syndrome?

GeneTests lists the names of laboratories that are performing genetic testing for Axenfeld-Rieger syndrome. To view the clinical laboratories conducting testing click here.  To access the contact information for the research laboratories performing genetic testing, click here

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 4/11/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
  • 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;
  • 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..
  • Traboulsi EI. A Compendium of Inherited Disorders and the Eye. New York, NY: Oxford University Press, Inc; 2006: 22-25..
  • Inci Irak-Dersu. Glaucoma, Secondary Congenital. eMedicine. 2010; http://www.emedicine.com/oph/topic141.htm. Accessed 4/11/2011.
  • Axenfeld-Rieger syndrome type 1. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/180500. Accessed 4/11/2011.
  • Axenfeld-Rieger syndrome type 3. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/602482 . Accessed 4/11/2011.
  • Axenfeld-Rieger syndrome type 2. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/601499. Accessed 4/11/2011.
Other Names for this Disease
  • Goniodysgenesis hypodontia
  • Iridogoniodysgenesis with somatic anomalies
  • Rieger 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.