47, XXX 증후군 환자에서의 맥락망막결손증 1예

• 영문명: A Case of Chorioretinal Coloboma in Triple X Syndrome
• 발행기관: 대한안과학회
• 저자명: 이나은 박연정 유지명,Na Eun Lee, MD, Yeon Jeong Park, MD, Ji Myong Yoo, MD,
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume50,number12, 1898~1901쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2009.12.15

영문 초록

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. J Korean Ophthalmol Soc 2009;50(12):1898-1901

키워드

Chorioretinal coloboma, Triple X syndrome