Axenfeld-Rieger syndrome

A new disease profile is added to our database – Axenfeld-Rieger syndrome. Axenfeld-Rieger syndrome represents a rare spectrum of developmental disorders characterizes by an anteriorly displaced Schwalbe`s line (posterior embryotoxon) with attached iris strands, iris hypoplasia, and anterior chamber dysgenesis leading to glaucoma in childhood or adulthood in 50% of cases. Developmental arrest that occurs late in gestation results in primordial endothelium being retained over parts of the iris and anterior chamber angle. Contraction of this primordial monolayer causes iris stromal thinning, corectopia, and hole formation. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in ophthalmology – Prof. Dr. Ruska Hristova, MD, PhD.