Learn About Axenfeld-Rieger Syndrome

What is the definition of Axenfeld-Rieger Syndrome?

Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.

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What are the causes of Axenfeld-Rieger Syndrome?

Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes are transcription factors, which means they attach (bind) to DNA and help control the activity of other genes. These transcription factors are active before birth in the developing eye and in other parts of the body. They appear to play important roles in embryonic development, particularly in the formation of structures in the anterior segment of the eye.

How prevalent is Axenfeld-Rieger Syndrome?

Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people.

Is Axenfeld-Rieger Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Who are the top Axenfeld-Rieger Syndrome Local Doctors?
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Highly rated in
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Flinders University

Eye And Vision Research, Flinders Health And Medical Research Institute, Flinders University 
Adelaide, SA, AU 

Emmanuelle Souzeau is in Adelaide, Australia. Souzeau is rated as an Elite expert by MediFind in the treatment of Axenfeld-Rieger Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Glaucoma, Axenfeld-Rieger Syndrome, Pigment-Dispersion Syndrome, and Congenital Cataract.

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Highly rated in
2
conditions

University Of Alberta

Alberta Children's Hospital Research Institute, Cumming School Of Medicine 
Calgary, AB, CA 

Morteza Seifi is in Calgary, Canada. Seifi is rated as an Elite expert by MediFind in the treatment of Axenfeld-Rieger Syndrome. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Axenfeld-Rieger Syndrome, Iridogoniodysgenesis Type 1, Status Epilepticus, and Hearing Loss.

 
 
 
 
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Distinguished
Highly rated in
6
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University Of Alberta

Edmonton, AB, CA T6G2R

Michael Walter is in Edmonton, Canada. Walter is rated as a Distinguished expert by MediFind in the treatment of Axenfeld-Rieger Syndrome. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Axenfeld-Rieger Syndrome, Iridogoniodysgenesis Type 1, Fish-Eye Disease, and Glaucoma.

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Who are the sources who wrote this article ?

Published Date:updated Last, November

Published By: National Institutes of Health

What are the Latest Advances for Axenfeld-Rieger Syndrome?
Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature.
A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.
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Laser corepraxy in mesodermal iris dysgenesis (Axenfeld-Rieger syndrome) (case report).