A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
10.3341/kjo.2015.29.4.249
- Author:
Hee Jung YANG
1
;
You Kyung LEE
;
Choun Ki JOO
;
Jung Il MOON
;
Jee Won MOK
;
Myoung Hee PARK
Author Information
1. Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea. marypark@catholic.ac.kr
- Publication Type:Case Reports
- Keywords:
Anterior segment dysgenesis;
Axenfeld-Rieger syndrome;
Forkhead box C1 gene
- MeSH:
Aged, 80 and over;
Anterior Eye Segment/*abnormalities/metabolism;
DNA/*genetics;
DNA Mutational Analysis;
Eye Abnormalities/diagnosis/*genetics/metabolism;
Female;
Forkhead Transcription Factors/*genetics/metabolism;
Genetic Testing;
Homeodomain Proteins/*genetics/metabolism;
Humans;
Male;
Middle Aged;
*Mutation;
Pedigree;
Retrospective Studies;
Transcription Factors/*genetics/metabolism;
Young Adult
- From:Korean Journal of Ophthalmology
2015;29(4):249-255
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: 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.
