Axenfeld-Rieger syndrome type 1
- Rieger syndrome type 1
Your QuestionI 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- How can I learn about research involving Axenfeld-Rieger syndrome?
- What is Axenfeld-Rieger syndrome?
- What are the signs and symptoms of Axenfeld-Rieger syndrome?
- My lens is detaching and migrating away from my displaced pupil. Is this a common effect of Axenfeld-Rieger syndrome?
- Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated?
- How is Axenfeld-Rieger syndrome inherited?
- What is the likelihood that a person with Axenfeld-Rieger syndrome would have a more severely affected child?
- Is genetic testing available for Axenfeld Rieger syndrome?
- How can I find a genetics professional in my area?
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.
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
Web site: http://clinicalcenter.nih.gov/
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. The gene that causes Axenfeld-Rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.
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.
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.
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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
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- 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 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.