A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
Korean Journal of Ophthalmology
;
: 249-255, 2015.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fatores de Transcrição
/
DNA
/
Análise Mutacional de DNA
/
Anormalidades do Olho
/
Testes Genéticos
/
Estudos Retrospectivos
/
Proteínas de Homeodomínio
/
Fatores de Transcrição Forkhead
/
Segmento Anterior do Olho
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
Limite:
Idoso
/
Aged80
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Korean Journal of Ophthalmology
Ano de publicação:
2015
Tipo de documento:
Artigo
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