A Case of Chorioretinal Coloboma in Triple X Syndrome.
10.3341/jkos.2009.50.12.1898
- Author:
Na Eun LEE
1
;
Yeon Jeong PARK
;
Ji Myong YOO
Author Information
1. Department of Ophthalmology, Gyeong Sang National University, Colleage of Medicine, Jinju, Korea. yjm@gnu.ac.kr
- Publication Type:Case Report
- Keywords:
Chorioretinal coloboma;
Triple X syndrome
- MeSH:
Brain;
Cerebellum;
Child;
Chromosomes, Human, X;
Coloboma;
Exotropia;
Eye;
Female;
Hand;
Humans;
Infant;
Karyotype;
Magnetic Resonance Imaging;
Sex Chromosome Aberrations;
Sex Chromosome Disorders of Sex Development;
Strabismus;
Syndactyly;
Trisomy
- From:Journal of the Korean Ophthalmological Society
2009;50(12):1898-1901
- CountryRepublic of Korea
- Language:Korean
-
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.
