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.
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome
with PITX2 Mutation.
(ARS) (MIM 180500) is an autosomal dominant disorder with variable gene expression which affects the development of the teeth, eyes and abdominal region.
Exclusion criteria were as follows: history of previous surgery, secondary glaucoma, Axenfeld-Rieger syndrome
, aniridia, Sturge-Weber syndrome.
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].
. A spectrum of developmental disorders.
(ARS) is a rare autosomal dominant disorder, characterized by anterior segment abnormalities and systemic abnormalities [1, 2].
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
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
(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).