A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
Korean Journal of Ophthalmology
;
: 249-255, 2015.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Facteurs de transcription
/
ADN
/
Analyse de mutations d'ADN
/
Malformations oculaires
/
Dépistage génétique
/
Études rétrospectives
/
Protéines à homéodomaine
/
Facteurs de transcription Forkhead
/
Pôle antérieur du bulbe oculaire
Type d'étude:
Etude diagnostique
/
Étude observationnelle
/
Étude pronostique
Limites du sujet:
Adulte très âgé
/
Aged80
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Korean Journal of Ophthalmology
Année:
2015
Type:
Article
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