Posterior embryotoxon and Axenfeld-Rieger syndrome: a case report

Introduction: We report the case of a 14-month-old girl with ocular and craniofacial malformations that prompted a comprehensive evaluation and subsequent diagnosis of Axenfeld-Rieger syndrome (ARS). This case emphasizes the importance of thoroughness and a multidisciplinary approach in patient evaluation. Case report: A 14-month-old girl exhibited abnormal craniofacial and ocular features, including marked posterior embryotoxon with iris strands attached to the Schwalbe’s line and patchy iris due to stroma hypoplasia. Systemic testing revealed only minimal mitral regurgitation as the only other finding. Genetic testing later confirmed the diagnosis of ARS and a familial study identified the same variant in the proband’s mother. Discussion: ARS is a rare genetic disorder characterized by developmental abnormalities, including anterior segment malformations of the eye, along with classic systemic findings, notably craniofacial dysmorphisms, dental anomalies and periumbilical redundant skin. Diagnosis primarily relies on clinical assessment, particularly the ocular findings. Upon considering this hypothesis, further investigation for systemic malformations should occur, with genetic testing confirming the diagnosis.