We report an unusual case of Axenfeld-Rieger Syndrome with secondary glaucoma managed with Ologen(®) implant. A 35-year-old male presented with complaints of decreased vision in both eyes of 22 years duration. His best corrected visual acuity (BCVA) was no perception of light in right eye and 20/30 in left eye. Gonioscopy revealed anterior insertion of iris into trabecular meshwork, prominent i...

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma r...

Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence of one in every 200,000 individuals. T...

The Rieger syndrome is caused by an autosomal dominant gene which produces malformations of the anterior chamber of the eye and the teeth. Though a wide spectrum of additional malformations is found, they form no recognisable pattern and so their association is considered to be accidental (Alkemade, 1969). The Axenfeld syndrome consists of two of the three major eye malformations found in the R...

PURPOSE To determine the biochemical defects that underlie Axenfeld-Rieger malformations, to determine a functional role for wing 2 in FOXC1, and to understand how mutations in this region disrupt FOXC1 function. METHODS Sequencing DNA from patients with Axenfeld-Rieger malformation resulted in the identification of two novel missense mutations (G165R and R169P) in wing 2 of FOXC1. Site-direc...