Axenfeld Rieger Syndrome Type 1
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.