Axenfeld-Rieger Syndrome–A Rare Phenomenon

Purpose: Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies. This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family. Material and Method: Three members of the family: patient 1--father (54 years old), patient 2--son (12 years old) and patient 3--daughter (8 years old), underwent complete ophthalmic examination, including standard glaucoma diagnostics. It was impossible to perform complete eye examination in one case (patient 1) because of severity of ocular changes. Results: All family members described had iris abnormalities (hypoplastic iris stroma) and advanced glaucoma, however severity of symptoms were different in each case. The most advanced disease was recognized in patient 1. Other findings included: posterior embryotoxon (patients 2 and 3), iridocorneal angle abnormalities (patients 2 and 3), stretch holes and extraocular features (patient 2): dental anomalies (microdontia and hypodontia), maxillary hypoplasia and periumbilical skin fold. All of these symptoms supported the diagnosis of Axenfeld-Rieger syndrome. In addition, we also diagnosed high myopia & strabismus (patient 2) and corneal scar in (patient 1). Conclusion: Reported cases of Axenfeld-Rieger syndrome demonstrate phenotypic variability of the disease among family members, which is characteristic for this disorder and can cause diagnostic problem.