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PURPOSE: The aim of this presentation is to report a rare association between interatrial aneurysm and Axen-Rieger syndrome. METHODS: The authors present a 20-year-old girl with Axen-Rieger syndrome, in whom the diagnosis was confirmed by the dysmorphic facial appearance, slit-lamp examination, applanation tonometry, gonioscopy, and cardiovascular examination. RESULTS: The patient had a prominent Schwalbe's line in all quadrants, iris atrophy, and secondary glaucoma in both eyes. The echocardiogram revealed an atrial septal defect with interatrial aneurysm. CONCLUSIONS: This is the first case report of coexisting Axenfeld-Rieger syndrome and interatrial aneurysm. The authors would like to stress that aneurysm can be a potential occult source of cerebral embolism.
Dr. N.A. Bekir, Department of Ophthalmology, Medical Faculty, Gaziantep University, Gaziantep, Turkey
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)