A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
Korean Journal of Ophthalmology
;
: 249-255, 2015.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Factores de Transcripción
/
ADN
/
Análisis Mutacional de ADN
/
Anomalías del Ojo
/
Pruebas Genéticas
/
Estudios Retrospectivos
/
Proteínas de Homeodominio
/
Factores de Transcripción Forkhead
/
Segmento Anterior del Ojo
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
/
Estudio pronóstico
Límite:
Anciano
/
Aged80
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Korean Journal of Ophthalmology
Año:
2015
Tipo del documento:
Artículo
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