Rieger syndrome

Common Name(s)

Rieger syndrome

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals ({12:Fitch and Kaback, 1978}). Systemic anomalies have also been associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia ({1:Alkemade, 1969}). See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities. Axenfeld-Rieger anomaly has also been observed in some patients with small vessel disease of the brain, see {607595}. A closely related ocular disorder, iridogoniodysgenesis, can also be caused by mutation in the FOXC1 and PITX2 genes; see IRID1 ({601631}) and IRID2 ({137600}), respectively. Genetic Heterogeneity of Axenfeld-Rieger Syndrome Linkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; 601499). A third form of Axenfeld-Rieger syndrome (RIEG3; {602482}) is caused by mutation in the FOXC1 gene ({601090}) on chromosome 6p25.
 

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Condition Specific Organizations

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

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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 "Rieger syndrome" returned 37 free, full-text research articles on human participants. First 3 results:

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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[Axenfeld-Rieger syndrome].
 

Author(s): A Sauer, C Speeg-Schatz

Journal: J Fr Ophtalmol. 2012 May;35(5):392.

 

Last Updated: 14 May 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "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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