A Case of Rubinstein-Taybi Syndrome with Optic Disc Coloboma and Chorioretinal Coloboma

Seung Chan Lee; Hui Jae Lee; Seung Jun Lee

doi:10.3341/jkos.2011.52.6.766

Journal List > J Korean Ophthalmol Soc > v.52(6) > 1009072

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Lee, Lee, and Lee: A Case of Rubinstein-Taybi Syndrome with Optic Disc Coloboma and Chorioretinal Coloboma

Original Article

J Korean Ophthalmol Soc 2011;52(6):766-769.

Published online: 31 August 2011

DOI: https://doi.org/10.3341/jkos.2011.52.6.766

A Case of Rubinstein-Taybi Syndrome with Optic Disc Coloboma and Chorioretinal Coloboma

Seung Chan Lee, MD, Hui Jae Lee, MD, Seung Jun Lee, MD

Department of Ophthalmology, School of Medicine, Kangwon National University, Chuncheon, Korea

Address reprint requests to Seung Jun Lee, MD, Department of Ophthalmology, Kangwon National University Hospital #156 Baengryeong-ro, Chuncheon 200-722, Korea Tel: 82-33-258-2443, Fax: 82-33-258-2191, E-mail: opitcus@kangwon.ac.kr

Received 13 December 2010 Revised 10 January 2011 Accepted 22 March 2011

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

The authors report a case of Rubinstein-Taybi syndrome with optic disc coloboma and chorioretinal coloboma.

Case summary

A 17-month-old female infant was brought to our clinic presenting exodeviation in the right eye. On cycloplegic refraction, her refractive power was −5.50 D sph −2.50 D cyl axis 180° in the right eye and +0.50 D sph in the left eye. On ophthalmologic examination, exotropia of 60 prism diopters with no limitation of ocular movement was observed. Fundus examination showed optic disc coloboma and chorioretinal coloboma in the right eye. The patient's physical characteristics were downward slanted palpebral fissures, long eyelashes, low set ears, and the thumb and the big toe were disproportionately broad. The patient also demonstrated delayed gait abilities. The clinical diagnosis of Rubinstein-Taybi syndrome was given.

Conclusions

The authors report a child with Rubinstein-Taybi syndrome with optic disc coloboma and chorioretinal coloboma, the first to be reported in Korea.

Keywords: Big toe, Broad thumb, Coloboma, Exotropia, Rubinstein-Taybi syndrome

References

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Figure 1.

Fundus examination demonstrated optic disc coloboma and chorioretinal coloboma.

Figure 2.

Characteristic facial features: Downward slanted palpebral fissures, long eyelashes, low set ears and exotropia (A). Typical hand abnormalities: The thumb is disproportionately broad, especially the distal phalanx (B).

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