title: A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
abstract: OBJECTIVE
  To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome.
  
  
  METHODS
  A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing.
  
  
  RESULTS
  The affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members.
  
  
  CONCLUSIONS
  This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.
authors.affiliation: Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Hee Jung
authors.initials: HJ
authors.lastname: Yang
authors.affiliation: Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: You Kyung
authors.initials: YK
authors.lastname: Lee
authors.affiliation: Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Choun-Ki
authors.initials: CK
authors.lastname: Joo
authors.affiliation: Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Jung Il
authors.initials: JI
authors.lastname: Moon
authors.affiliation: Catholic Institute for Visual Science, Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Jee Won
authors.initials: JW
authors.lastname: Mok
authors.affiliation: Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Myoung Hee
authors.initials: MH
authors.lastname: Park
mesh_terms: D000369:Aged, 80 and over; D000869:Anterior Eye Segment / Q000002:abnormalities* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D015785:Eye Diseases, Hereditary; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000378:metabolism; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012189:Retrospective Studies; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult; D000097577:Homeobox Protein PITX2
chemical_list: D004247:DNA; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C112743:FOXC1 protein, human
keywords: Anterior segment dysgenesis; Axenfeld-Rieger syndrome; Forkhead box C1 gene