47, XXX 증후군 환자에서의 맥락망막결손증 1예

A Case of Chorioretinal Coloboma in Triple X Syndrome

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