Axenfeld-Rieger syndrome

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 on 05-01-20

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 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 on 05-01-20

What is Axenfeld-Rieger syndrome?

Axenfeld-Rieger syndrome is a group of disorders that mainly affects the development of the eye. Common eye symptoms include cornea defects and iris defects. 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, a condition that increases pressure inside of the eye, and may cause vision loss or blindness. Click here to view a diagram of the eye.

Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome can 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 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. Treatment depend on the symptoms.

Last updated on 05-01-20

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 on 05-01-20

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 on 05-01-20

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

The U.S. National Institutes of Health, through the National Library of Medicine, developed 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

]( 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 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

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
Web site:

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 on 05-01-20

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

A dislocated lens is not usually associated with Axenfeld-Rieger syndrome.

Last updated on 05-01-20

How might Axenfeld-Rieger be treated?

If glaucoma is present, the goal of treatment is to decrease intra-ocular pressure (IOP). An annual ophthalmologic exam should be done using several specific exams to detect the presence of glaucoma. Should glaucoma develop, eye drops are usually recommended before surgery. Medications that might be prescribed include those that decrease aqueous output (beta-blockers, alpha- agonists and carbonic anhydrase inhibitors). However, alpha-agonists should be used with caution in young children because of possible neurologic effects. Surgery is performed if eye drops are not sufficient in lowering IOP. If surgery is necessary, the procedure of choice is trabeculectomy. Laser surgery may also be indicated. Patients with corectopia (pupil is off center and not located where it should be) and polycoria (more than one pupil is present in the eye) may experience too much sensitivity to light (photophobia), and contact lenses may be helpful.

If the person has additional findings, treatment will depend on the symptoms present, and may include surgery to correct facial or dental problems, heart surgery, or corrective surgery for the cases of hypospadia. Short stature due to a growth hormone deficiency may be treated with growth hormone.

Last updated on 05-01-20

Name: Glaucoma Research Foundation 251 Post Street, Suite 600
San Francisco, CA, 94108, United States
Phone: 415-986-3162 Toll Free: 800-826-6693 Fax : 415-986-3763 Email: Url:
Name: Children's Glaucoma Foundation 2 Longfellow Place Suite 201
Boston, MA, 02114, United States
Phone: 617-227-3011 Url:
Name: International Glaucoma Association Woodcote House 15 Highpoint Business Village
Henwood Ashford Kent TN24 3DH
United Kingdom
Phone: (044) 1233 64 81 70 Fax : (044) 1233 64 81 79 Email: Url:
Name: National Association for Parents of Children with Visual Impairments (NAPVI) P.O. Box 317
Watertown, MA, 02471, United States
Phone: 617-972-7441 Toll Free: 800-562-6265 Fax : 617-972-7444 Email: Url:

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