Overview

Type of disease: Rare conditions

Axenfeld-Rieger syndrome refers to a spectrum of developmental eye disorders. Common eye symptoms include cornea defects, iris defects, and glaucoma. About 50% of affected individuals become blind from glaucoma. Other associated developmental defects commonly involve the teeth and facial bones.  . Click here to view a diagram of the eye.

There are three types of Axenfeld-Rieger syndrome, which are distinguished by their genetic cause. Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene and Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene.  The gene that causes Axenfeld-Rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13.  Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.