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Axenfeld-Rieger Syndrome in Monozygotic Twins

Ma, Jin MD*; Zhong, Yong MD*; Zhao, Chan MD*; Zhang, Xuejing MD; Sui, Ruifang MD*; Chu, Pinghao MD*; Zhao, Jialiang MD*

Journal of Glaucoma:
doi: 10.1097/IJG.0b013e3181f7b258
Case Reports
Abstract

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.

Author Information

Departments of *Ophthalmology

Stomatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China

Reprints: Yong Zhong, MD, Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, P.R. China (e-mail: yzhong_eye@yahoo.com.cn).

Disclosure: The authors declare no conflict of interest.

Received February 27, 2010

Accepted August 16, 2010

© 2011 Lippincott Williams & Wilkins, Inc.