A Case Report on Glaucoma and Anterior Segment Abnormalities in Axenfeld-Rieger Syndrome

Axenfeld-Rieger syndrome is a rare genetic disorder with an autosomal dominant inheritance pattern which encompasses a range of congenital malformations involving the anterior segment of the eye, along with systemic malformations such as craniofacial dysmorphism, dental abnormalities, umbilical abnormalities and congenital heart defects. Mutations in the transcription factor-encoding genes FOXC1 and PITX2 have been associated with the pathogenesis of acute radiation syndrome (ARS). This case report describes a case of a 26-year-old female with progressive loss of vision in both eyes for 3 years. On complete ophthalmic examination, both eyes exhibited characteristic posterior embryotoxon with iris hypoplasia and 360° peripheral anterior synechiae with raised intraocular pressures. The patient had dysmorphic craniofacial anomalies including a flat nasal bridge, maxillary hypoplasia, hypertelorism and the presence of characteristic redundant periumbilical skin. On the basis of distinctive ocular and systemic features, the patient was diagnosed with Axenfeld-Rieger Syndrome. The patient was managed medically with antiglaucoma drugs to maintain the intraocular pressure of the eye. Due to the rarity of ARS, this case focuses on the long-term management and follow-up of these patients and the need to address glaucoma which can potentially lead to blindness in the future.