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 39 free, full-text research articles on human participants. First 3 results:

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.
 

Author(s): Bhavin M Shah, Tanuj Dada, Anita Panda, Mukesh Tanwar, Shibal Bhartiya, Rima Dada

Journal: Indian J Ophthalmol. 2014 Mar;62(3):358-60.

 

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, ...

Last Updated: 11 Apr 2014

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Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients.
 

Author(s): Y A Ito, I S Goping, F Berry, M A Walter

Journal:

 

Mutations in the Forkhead Box C1 (FOXC1) transcription factor gene are associated with Axenfeld-Rieger syndrome (ARS), a developmental disorder affecting structures in the anterior segment of the eye. Approximately 75% of ARS patients with FOXC1 mutations develop earlier-onset glaucoma. ...

Last Updated: 21 Feb 2014

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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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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 3 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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Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome.
 

Author(s): N A Bekir, K Güngör

Journal: Acta Ophthalmol Scand. 2000 Feb;78(1):101-3.

 

The aim of this presentation is to report a rare association between interatrial aneurysm and Axenfeld-Rieger syndrome.

Last Updated: 3 Apr 2000

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Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?
 

Author(s): I Mammi, P De Giorgio, M Clementi, R Tenconi

Journal: Acta Ophthalmol Scand. 1998 Aug;76(4):509-12.

 

Rieger Syndrome (RS) is an autosomal dominant disease, in which Axenfeld's and Rieger's anomalies are associated with typical facial dysmorphism and other extra-ocular findings. Cardiovascular defects are considered an occasional finding in this syndrome.

Last Updated: 13 Oct 1998

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Symptoms, Diagnosis, and Treatment

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