A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
Korean Journal of Ophthalmology
;
: 249-255, 2015.
Article
in English
| WPRIM
| ID: wpr-89401
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Transcription Factors
/
DNA
/
DNA Mutational Analysis
/
Eye Abnormalities
/
Genetic Testing
/
Retrospective Studies
/
Homeodomain Proteins
/
Forkhead Transcription Factors
/
Anterior Eye Segment
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
Limits:
Aged
/
Aged80
/
Female
/
Humans
/
Male
Language:
English
Journal:
Korean Journal of Ophthalmology
Year:
2015
Type:
Article
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