J Korean Ophthalmol Soc > Volume 50(12); 2009 > Article
Journal of the Korean Ophthalmological Society 2009;50(12):1898-1901.
DOI: https://doi.org/10.3341/jkos.2009.50.12.1898    Published online December 15, 2009.
A Case of Chorioretinal Coloboma in Triple X Syndrome.
Na Eun Lee, Yeon Jeong Park, Ji Myong Yoo
1Department of Ophthalmology, Gyeong Sang National University, Colleage of Medicine, Jinju, Korea. yjm@gnu.ac.kr
2Gyeong Sang Institute of Health Science, Gyeong Sang National University, Jinju, Korea.
47, XXX 증후군 환자에서의 맥락망막결손증 1예
이나은1ㆍ박연정1ㆍ유지명1,2
Department of Ophthalmology, Gyeong Sang National University, Colleage of Medicine1, Jinju, Korea Gyeong Sang Institute of Health Science, Gyeong Sang National University2, Jinju, Korea
Abstract
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.
Key Words: Chorioretinal coloboma;Triple X syndrome


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