BACKGROUND Anterior segment dysgenesis is a failure of normal development of the anterior segment of the eye. The structural anomalies are associated with glaucoma and corneal opacity which may lead to blindness. CASE PRESENTATION A Caucasian male was noted to have 'funny pupils' at the age of seven years but not followed up. He was diagnosed to have Axenfeld-Rieger syndrome at the age of thi...

Axenfeld-Rieger Syndrome (ARS) is a rare genetic disease affecting multiple organ systems. In the eye, it can be manifested with varying degrees of anterior segment dysgenesis and it carries a high risk of glaucoma [1]. Recent advantages in molecular genetics have identified two major genes, PITX2 and FOXC1, demonstrating a wide spectrum of mutations, which aids in the molecular diagnosis of th...

Axenfeld Rieger Syndrome is anterior segment dysgenesis characterized by posterior embryotoxon and of the chamber. Developmental abnormalities angle cause increased resistance to outflow. Ocular hypertension a complication in almost 50% cases. It an autosomal dominant disease its prevalence between 50,000 100,000 newborns per year. The main associated affected genes are FOXC1 PITX2, occurring 4...

Background: Axenfeld-Rieger syndrome (ARS), a developmental disorder, involves anterior segment abnormalities and can lead to glaucoma. However, limited research has addressed the ultrasound biomicroscopy (UBM) characteristics of ARS. This study aimed assess chamber angle features using UBM in ARS determine their correlation with glaucoma severity mutant genes.

The Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/ right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 tr...

A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.

The Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 tra...