Axenfeld-Rieger syndrome

Common Name(s)

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome refers to a spectrum of developmental eye disorders. Common eye symptoms include cornea defects, iris defects, and glaucoma. About 50% of affected individuals become blind from glaucoma. Other associated developmental defects commonly involve the teeth and facial bones.  . Click here to view a diagram of the eye.

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Axenfeld-Rieger syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Axenfeld-Rieger syndrome" returned 25 free, full-text research articles on human participants. First 3 results:

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.
 

Author(s): Hou-fa Yin, Xiao-yun Fang, Chong-fei Jin, Jin-fu Yin, Jin-yu Li, Su-juan Zhao, Qi Miao, Feng-wei Song

Journal: J Zhejiang Univ Sci B. 2014 Jan;15(1):43-50.

 

Axenfeld-Rieger syndrome (ARS) is phenotypically and genetically heterogeneous. In this study, we identified the underlying genetic defect in a Chinese family with ARS.

Last Updated: 6 Jan 2014

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Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.
 

Author(s): Jae Won Yun, Hyun-Kyung Cho, Soo-Young Oh, Chang-Seok Ki, Changwon Kee

Journal: Ann Lab Med. 2013 Sep;33(5):360-3.

 

Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel ...

Last Updated: 4 Sep 2013

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A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.
 

Author(s): Gyu-Nam Kim, Chang-Seok Ki, Seong-Wook Seo, Ji-Myong Yoo, Yong-Seop Han, In-Young Chung, Jong-Moon Park, Seong-Jae Kim

Journal:

 

To report a case series of patients with novel forkhead box CI (FOXC1) mutations in a Korean family with Axenfeld-Rieger syndrome (ARS).

Last Updated: 20 May 2013

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Reviews from the PubMed Database

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The terms "Axenfeld-Rieger syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
 

Author(s): Zeynep Tümer, Daniella Bach-Holm

Journal: Eur. J. Hum. Genet.. 2009 Dec;17(12):1527-39.

 

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the ...

Last Updated: 20 Nov 2009

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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