A Case of Chorioretinal Coloboma in Triple X Syndrome
Journal of the Korean Ophthalmological Society
; : 1898-1901, 2009.
Article
em Ko
| WPRIM
| ID: wpr-16596
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE:
To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma. CASESUMMARY:
A one-year-old female infant presented with 35PD exotropia in the primary position. The patient had poor fixation of the right eye, and a fundus examination showed chorioretinal coloboma in the inferior region of her right eye. The patient also exhibited syndactyly of the right hand. Brain magnetic resonance imaging revealed a well-defined 2 cm cyst in the right cerebellum. Upon chromosomal study, the patient's karyotype was found to be 47, XXX.CONCLUSIONS:
When infants or children present with ophthalmologic findings such as strabismus and coloboma, systemic conditions and congenital problems should be considered.Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Aberrações dos Cromossomos Sexuais
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Trissomia
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Encéfalo
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Imageamento por Ressonância Magnética
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Cerebelo
/
Coloboma
/
Exotropia
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Estrabismo
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Sindactilia
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Cromossomos Humanos X
Limite:
Child
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Female
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Humans
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Infant
Idioma:
Ko
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2009
Tipo de documento:
Article