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Abstract #48277 Published in IGR 13-4
Axenfeld-rieger syndrome in monozygotic twins
Ma J; Zhong Y; Zhao C; Zhang X; Sui R; Chu P; Zhao JJournal of Glaucoma 2011; 20: 584-586
Two teenaged monozygotic twin sisters with Axenfeld-Rieger syndrome (ARS) were referred to our center for uncontrolled glaucoma from the local hospital in December 2006. At presentation, typical components of ARS could be found in both patients, including iris anomaly, maxillary hypoplasia, hypodontia, and umbilical skin fold. Both sisters received trabeculectomy in both the eyes later in our center. Intraocular pressure was well controlled in both the eyes in both patients 1 year after the surgeries. No mutations were found by direct sequencing of PITX2 and FOXC1 genes, in the twin sisters. As far as we know, no earlier report has described monozygotic twins with ARS in the international literature.
Departments of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China.
Classification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
