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 |
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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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