A Case Report of Axenfeld-Rieger Anomaly

Abstract

Axenfeld-Rieger (AR) syndrome is an inherited Autosomal Dominant (AD) disorder with ocular, dental, and craniofacial defects, whereas AR anomaly presents only with ocular changes. Hereby, the authors present a case report of 40-year-old male patient who reported to the Outpatient Department (OPD) with complaints of diminution of vision in Both Eyes (BE) for three years. There was a significant family history. Visual acuity was limited to hand movements in both eyes. Both eyes showed prominent Schwalbe’s line, iris atrophic patches, and ectropion uvea. Intraocular Pressure (IOP) was high in the Right Eye (RE) and within normal limits in the Left Eye (LE). No craniofacial or dental anomalies were detected. Gonioscopy revealed a closed angle with broad peripheral anterior synechiae in both eyes. Fundus examination revealed a Cup Disc Ratio (CDR) of 0.5 in the RE and 0.9 in the LE. AR anomaly is a rare case. Long-term follow-up of these cases is as important as early diagnosis and treatment to prevent blindness.

Keywords

• anterior segment dysgenesis
• intraocular pressure
• posterior embryotoxon
• secondary glaucoma