Axenfeld-Rieger syndrome

Definition:

Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead to blindness and is the main target of treatment in RIEG. Defects in other organ systems, typically the craniofacial, dental, and umbilical abnormalities, are also part of the disorder.

References:

[1]. Jennie M Waldron, et al. Axenfeld-Rieger syndrome (ARS): A review and case report. Spec Care Dentist. 2010 Sep-Oct;30(5):218-22. [Content Brief]

[2]. Tord A Hjalt, et al. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005 Nov 8;7(25):1-17. [Content Brief]

[3]. Zeynep Tümer, et al. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet. 2009 Dec;17(12):1527-39. [Content Brief]

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