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

• Lee NE
• Park YJ
• Yoo JM

• KMID: 2213006
• DOI: http://doi.org/10.3341/jkos.2009.50.12.1898

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

MeSH Terms

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
Chromosomes, Human, X
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Trisomy

Figure

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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).

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

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  Figure 3. Digital photography of right hand of the patient. (A) Before the splitting of the syndactyly. (B) 10 days after operation.

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  Figure 4. Chromosomal study of the patient. This shows triple X(47, XXX) for karyotype.

Reference

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