Axenfeld-Rieger syndrome

An autosomal dominant condition (OMIM:180500) characterised by hypodontia, defect of the anterior chamber of the eye, myotonic dystrophy and anal stenosis.

Molecular pathology
Type-1 Axenfield-Rieger syndrome is caused by a mutation in a homeobox transcription factor gene PITX2; a second type of A-R syndrome has a defect that maps to chomosome 14q13, RIEG2.

Axenfeld-Rieger syndrome

(ăk′sĕn-fĕld-rē′gĕr)

[Karl Theodor Paul Polykarpus Axenfeld, German ophthalmologist, 1867–1930; Herwigh Rieger, Austrian ophthalmologist, 1898–1986]

A-R syndrome

A congenital disorder of the anterior chamber of the eye with anomalous development of the iris. The ocular manifestations are always present in both eyes. Glaucoma develops in nearly half of all patients. Patients with A-R syndrome may also have developmental anomalies in other organs, including the skin, heart, facial bones, teeth, and pituitary gland.

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References in periodicals archive ?

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation.

Prevalence and Distribution of Developmental Dental Anomalies in Pediatric Patients/Cocuk Hostolordo Gelisimsel Dental Anomalilerin Gorulme Sikligi ve Dagilimi

Axenfeld-Rieger syndrome (ARS) (MIM 180500) is an autosomal dominant disorder with variable gene expression which affects the development of the teeth, eyes and abdominal region.

Recently Axenfeld's anomaly and Rieger's Anomaly/Syndrome have been re-classified as Axenfeld-Rieger syndrome as the two conditions have many overlapping features

Based on the history and clinical findings a diagnosis of Axenfeld-Rieger syndrome was made.

A case report of a family suffering from Axenfeld Rieger's syndrome

Exclusion criteria were as follows: history of previous surgery, secondary glaucoma, Axenfeld-Rieger syndrome, aniridia, Sturge-Weber syndrome.

Comparative results of viscotrabeculotomy and classical trabeculotomy in congenital glaucoma in a longer-term follow-up/Konjenital glokomlu olgularda viskotrabekulotomi ve klasik trabekulotomi cerrahisinin uzun donem karsilastirmali sonuclari

Mutations in Pitx2 may result in Axenfeld-Rieger syndrome with variable malformations to the eyes, teeth, maxilla, heart, ears, and brain [Miletich et al.

Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review

Axenfeld-Rieger Syndrome is a multisystemic genetic disorder inherited in an Autosomal dominant fashion in most of the cases but it can be sporadic also.

DISCUSSION: Anterior segment dysgenesis is a group of rare autosomal dominant condition including posterior embryotoxon, Axenfeld-Rieger syndrome, Peter's anomaly and aniridia.

Axenfeld-Rieger syndrome is a bilateral, heterogeneous condition and may include developmental abnormalities in the anterior chamber angle, iris, and trabecular meshwork.

Case report: Axenfeld-Rieger syndrome

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

Genetics in ophthalmology II-anterior segment diseases/Oftalmolojide genetik II-on segment hastaliklari

INTRODUCTION: Axenfeld-rieger syndrome (ARS) refers to an autosomal dominant genetic condition characterised by anterior segment dysgenesis and systemic abnormalities.

CONCLUSION: Axenfeld-rieger syndrome is a rare autosomal dominant disorder with high penetrance but variable expressivity associated with ocular and systemic developmental abnormalities.