title: Axenfeld-Rieger syndrome in monozygotic twins.
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.
authors.affiliation: Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China.
authors.forename: Jin
authors.initials: J
authors.lastname: Ma
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhong
authors.forename: Chan
authors.initials: C
authors.lastname: Zhao
authors.forename: Xuejing
authors.initials: X
authors.lastname: Zhang
authors.forename: Ruifang
authors.initials: R
authors.lastname: Sui
authors.forename: Pinghao
authors.initials: P
authors.lastname: Chu
authors.forename: Jialiang
authors.initials: J
authors.lastname: Zhao
mesh_terms: D000869:Anterior Eye Segment / Q000002:abnormalities; D004200:Diseases in Twins / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D005901:Glaucoma / Q000235:genetics* / Q000601:surgery; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007429:Intraocular Pressure; D014130:Trabeculectomy; D014157:Transcription Factors / Q000235:genetics; D014430:Twins, Monozygotic / Q000235:genetics*; D000097577:Homeobox Protein PITX2
chemical_list: D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C112743:FOXC1 protein, human