Axenfeld-Rieger syndrome

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