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?
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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?
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.
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
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.
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.
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 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.
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).
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.
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.
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.
- 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.