文章基本信息
- 标题：A Case of Chorioretinal Coloboma in Triple X Syndrome
- 本地全文：下载
- 作者：Lee, Na Eun ; Park, Yeon Jeong ; Yoo, Ji Myong 等
- 期刊名称：Journal of the Korean Ophthalmological Society
- 印刷版ISSN：0378-6471
- 出版年度：2009
- 卷号：50
- 期号：12
- 页码：1898-1901
- DOI：10.3341/jkos.2009.50.12.1898
- 语种：Korean
- 出版社：The Korean Ophthalmological Society
- 摘要：Purpose
To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma.
Case summaryA 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.
ConclusionsWhen infants or children present with ophthalmologic findings such as strabismus and coloboma, systemic conditions and congenital problems should be considered.
- 关键词：Chorioretinal coloboma; Triple X syndrome
