Familial Axenfeld-Rieger Anomaly, Atrial Septal Defect, and Sensorineural Hearing Loss

Abstract

AXENFELD-RIEGER anomaly (ARA) is an autosomal dominant–inherited ocular disorder characterized by iris stromal hypoplasia, angle abnormalities, and a prominent and an anteriorly displaced Schwalbe line (posterior embryotoxon), often with adherent iris strands.^1-3 Somatic defects may accompany ARA, including maxillary hypoplasia, hypodentia, umbilical hernia, and hypospadias. This combination of ocular and somatic anomalies is termed "Axenfeld-Rieger syndrome" (ARS).^1-3 Iridogoniodysgenesis anomaly shares with ARA autosomal dominant inheritance, iris stromal hypoplasia, and angle abnormalities but lacks posterior embryotoxon.^4-7 Iridogoniodysgenesis, like ARA, may be accompanied by maxillary hypoplasia, hypodentia, umbilical hernia, and hypospadias, in which case it is termed "iridogoniodysgenesis syndrome."^7-11 Autosomal dominant iris hypoplasia without angle abnormalities, posterior embryotoxon, or somatic anomalies has also been described.¹² Glaucoma occurs frequently in patients with each of these conditions.^1-12