A Case of Chorioretinal Coloboma in Triple X Syndrome

Na Eun Lee; Yeon Jeong Park; Ji Myong Yoo

doi:10.3341/jkos.2009.50.12.1898

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Lee, Park, and Yoo: A Case of Chorioretinal Coloboma in Triple X Syndrome

Original Article

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

Published online: 7 September 2009

DOI: https://doi.org/10.3341/jkos.2009.50.12.1898

A Case of Chorioretinal Coloboma in Triple X Syndrome

Na Eun Lee, MD¹, Yeon Jeong Park, MD¹, Ji Myong Yoo, MD^1,²

¹Department of Ophthalmology, Gyeong Sang National University, Colleage of Medicine, Jinju, Korea

²Gyeong Sang Institute of Health Science, Gyeong Sang National University, Jinju, Korea

Address reprint requests to Ji Myong Yoo, MD, Department of Ophthalmology Gyeong Sang National University, Colleage of Medicine #90 Chiram-dong, Jinju 660-702, Korea Tel: 82-55-750-8164, Fax: 82-55-758-4158, E-mail: yjm@gnu.ac.kr

Received 7 May 2009 Accepted 25 August 2009

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Chorioretinal coloboma, Triple X syndrome

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Figure 1.

Fundus photograghs show coloboma of choroids and retina involving optic disc in right eye(A) and normal fundus finging of left eye(B).

Figure 2.

Brain magnetic resonance imaging revealed a 2cm-sized well-defined cyst in the right cerebellum.

Figure 3.

Digital photography of right hand of the patient. (A) Before the splitting of the syndactyly. (B) 10 days after operation.

Figure 4.

Chromosomal study of the patient. This shows triple X(47, XXX) for karyotype.

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