PURPOSE To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and bu...

Three cases of the association between the Axenfeld-Rieger syndrome and retinal detachment in one family are described. Serious damage to the posterior segment of the eye in the Axenfeld-Rieger syndrome has not previously been reported.

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...

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.

OBJECTIVE To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss. METHODS We performed a retrospective review of the medical charts and the ocular histopathological material of multiple members of a family. RESULTS Congenital Axenfeld-Rieger anomaly and glauc...