Axenfeld-Rieger Syndrome in Childhood: Ocular and Systemic Manifestations

Abstract

Aims: Axenfeld-Rieger syndrome (ARS) is a rare congenital disorder characterized by anterior segment dysgenesis and systemic anomalies. Glaucoma develops in up to half of affected patients and represents the main cause of visual loss. We report a pediatric case illustrating the typical ocular and systemic features of ARS. Presentation of Case: A 7-year-old boy was referred for evaluation of abnormal iris appearance since birth. Ophthalmic examination revealed best-corrected visual acuity of 3/10 in both eyes, with corectopia (eccentric displacement of the pupil), polycoria (the presence of multiple pupillary openings) and bilateral posterior embryotoxon (a prominent and anteriorly displaced Schwalbe's line). Intraocular pressure and fundus findings were normal. Systemic assessment disclosed craniofacial dysmorphism, dental anomalies including hypodontia and microdontia, and psychomotor developmental delay. Echocardiography and abdominal ultrasound were normal. The patient had a history of umbilical hernia repair in infancy. Based on these findings, the diagnosis of Axenfeld-Rieger syndrome was established. The child was scheduled for cosmetic iridoplasty (a surgical procedure to reshape or reconstruct the iris) and enrolled in long-term ophthalmic follow-up. Discussion: ARS is a genetically heterogeneous condition most frequently associated with PITX2 or FOXC1 mutations. It presents with highly variable ocular and systemic manifestations. Iris anomalies are the hallmark ocular sign, whereas glaucoma remains the most vision-threatening complication. Systemic features such as dental anomalies and umbilical hernia are frequent, highlighting the need for multidisciplinary evaluation. Conclusion: This case highlights the importance of early recognition of ARS, comprehensive systemic assessment, and lifelong ophthalmic follow-up to prevent irreversible visual loss.