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KMID : 0360220090500121898
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Journal of the Korean Ophthalmological Society
2009 Volume.50 No. 12 p.1898 ~ p.1901
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A Case of Chorioretinal Coloboma in Triple X Syndrome
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Lee Na-Eun
Park Yeon-Jeong
Yoo Ji-Myong
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Abstract
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Purpose: To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma.
Case summary: 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.
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KEYWORD
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Chorioretinal coloboma, Triple X syndrome
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