J Korean Ophthalmol Soc.  2009 Dec;50(12):1898-1901. 10.3341/jkos.2009.50.12.1898.

A Case of Chorioretinal Coloboma in Triple X Syndrome

Affiliations
  • 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.

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.

Keyword

Chorioretinal coloboma; Triple X syndrome
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