Peripheral Anterior Synechiae as a Manifestation of Axenfeld-Rieger Anomaly

Abstract

Two unrelated children presented with bilateral extensive peripheral anterior synechiae and secondary glaucoma. Child 1 (Fig A, C, and D) was a 14-year-old girl, while child 2 (Fig B) was a boy who presented at 9 months of age. Child 1 had a 3–base-pair deletion (p.Asn160del), whereas child 2 had a 3–base-pair duplication (p.Gly456dup) in the FOXC1 gene which led us to a diagnosis of an Axenfeld-Rieger anomaly. There were no dental or other systemic abnormalities. Such extensive peripheral anterior synechiae in the absence of a visible posterior embryotoxon could be mistaken for a sequela of anterior uveitis (Magnified version of Fig A-D is available online at www.aaojournal.org).