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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
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?

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. To find these trials, click here. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

The National Eye Institute (NEI) at the National Institutes of Health in Bethesda, Maryland has completed clinical trials that may be of interest to you. Through these studies, the researchers may have discovered information that may be helpful to you. 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, Developmental, 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 find the results 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 1-800-411-1222 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 contact PRPL and 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: 1-800-411-1222
Fax: 301-480-9793
E-mail:prpl@mail.cc.nih.gov
Web site:http://clinicalcenter.nih.gov

You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Researchsection of our Web site.




Last updated: 1/5/2016

What is Axenfeld-Rieger syndrome?

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

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

Axenfeld-Rieger syndrome is an eye disorder. People with this disorder typically have cornea defects, which is the clear cover on the front of the eye. They may have a cloudy cornea or posterior embryotoxin, which is when you can see an opague ring around the outer edge of the cornea. People with this disorder can also have issues with their iris, which is the colored part of the eye. They typically have iris stands, which is connective tissue that connects the iris with the lens. There may be issues with the pupils as well, which is the black opening in the eye. One of the pupils may be in the wrong location (corectopia), the pupils may be abnormally large or small, or there may be extra pupils (polycoria). Click here to view a diagram of the eye.[1][4][6]

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. People with this syndrome can also have strabismus (cross-eye), cataracts (cloudy lens), macular degeneration (eye disorder that causes vision loss), or coloboma (a hole in a structure in the eye).[1][4][6]

Even though Axenfeld-Rieger syndrome is primarily an eye disorder, people with this syndrome can have symptoms that affect other parts of the body too. These symptoms mostly involve the teeth and facial bones. Symptoms affecting the teeth include cone-shaped teeth (peg-like incisors), missing teeth (oligodontia), small teeth (microdontia), and abnormal spacing of the teeth. Symptoms affecting the facial bones include things such as an underdeveloped jaw, a protruding lower lip, and widely-spaced eyes. Other symptoms include extra folds of skin around the belly button, heart defects, or other more rare birth defects.[1][2][4][6]
Last updated: 1/4/2016

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

No. A dislocated lens is not usually associated with Axenfeld-Rieger syndrome.[2]
Last updated: 1/3/2016

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 Centers of Excellence 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: 12/28/2015

How is Axenfeld-Rieger syndrome inherited?

Axenfeld-Rieger syndrome is inherited in an autosomal dominant manner.

We have two copies of every gene in our body. In autosomal dominant conditions, if there is a spelling mistake (a mutation) in just one copy of that gene, then that person will develop the condition. This mutation can be inherited from a parent, or it can happen by chance for the first time in that one person, which is called a de novo mutation.

Each child of an individual with Axenfeld-Rieger syndrome has a 50% chance of inheriting the mutation. Children who inherit the mutation will have Axenfeld-Rieger syndrome. Although, their symptoms could be more or less severe than their parent's.
Last updated: 1/4/2016

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 severity of symptoms of a child affected by Axenfeld-Rieger syndrome. However, we recommend contacting a genetics clinic to set up a consultation with a genetics professional.
Last updated: 1/4/2016

Is genetic testing available for Axenfeld Rieger syndrome?

The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. To view the clinical laboratories conducting testing click here.
Last updated: 1/4/2016

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..
  • Irak-Dersu I. Secondary Congenital Glaucoma. Medscape. March 14, 2014; http://www.emedicine.com/oph/topic141.htm. Accessed 3/30/2015.
  • 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. Genetics Home Reference: June 2012; http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome. Accessed 12/28/2015.
  • 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
  • Rieger syndrome
  • Iridogoniodysgenesis with somatic anomalies
  • Goniodysgenesis hypodontia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.