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 ?
Oas et al., "Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis," Human Molecular Genetics, vol.
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.
Mutations in Pitx2 may result in Axenfeld-Rieger syndrome with variable malformations to the eyes, teeth, maxilla, heart, ears, and brain [Miletich et al., 2005].
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by anterior segment abnormalities and systemic abnormalities [1, 2].
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.
INTRODUCTION: Axenfeld-rieger syndrome (ARS) refers to an autosomal dominant genetic condition characterised by anterior segment dysgenesis and systemic abnormalities.
Among them, Foxc1 and Foxc2 have attracted the most attention in view of their association with Axenfeld-Rieger syndrome (ARS).
Hence, careful surveillance of any systemic comorbidity is crucial in the well-being of the patient, as some systemic syndromes may carry life-threatening abnormalities that require prompt attention (e.g., cardiac outflow tract abnormalities in Axenfeld-Rieger syndrome) [3].
Axenfeld-Rieger syndrome (ARS) is a rare genetic disease generally with autosomal dominant inheritance characterized by ocular disorders (potentially including iris hypoplasia, corectopia, pseudopolycoria, posterior embryotoxon, and iris strands connecting to the trabecular meshwork or other angle structure anomalies) resulting in elevated intraocular pressure, sometimes accompanied by craniofacial abnormalities (telecanthus, hypertelorism) or dental defects (small or missing teeth).