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Lee, Hong, and Lyu: Williams Syndrome with Ocular Manifestations
Case Report

Journal of the Korean Ophthalmological Society 2017; 58(8): 1008-1011.

Published online: 16 August 2017

DOI: https://doi.org/10.3341/jkos.2017.58.8.1008

Williams Syndrome with Ocular Manifestations

Seung-Ki Lee, MD, Hyunkyu Hong, MD, In Jeong Lyu, MD

Department of Ophthalmology, Nowon Eulji Medical Center, Eulji University School of Medicine, Seoul, Korea.

Address reprint requests to In Jeong Lyu, MD. Department of Ophthalmology, Nowon Eulji Medical Center, Eulji University School of Medicine, #68 Hangeulbiseok-ro, Nowon-gu, Seoul 01830, Korea. Tel: 82-2-970-8270, Fax: 82-2-970-8872, ijlyu@eulji.ac.kr

Received 1 June 2017       Revised 13 July 2017       Accepted 1 August 2017

©2017 The Korean Ophthalmological Society

(open-access):

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 two cases of Williams syndrome with ocular manifestations

Case summary

A 5-year-old boy who was diagnosed with Williams syndrome visited our hospital for ophthalmic examination. Best corrected visual acuity (BCVA) in both eyes was 0.6. He had myopic astigmatism and 8 prism diopters of esotropia. Oval-shaped pupil with a stellate pattern of the iris and increased retinal vascular tortuosity were seen in both eyes. Another case of an 8-year-old boy with Williams syndrome also had myopia in both eyes. BCVA was 0.7 in the right eye and 0.4 in the left eye. A stellate pattern of the iris and increased retinal vascular tortuosity were also seen in both eyes.

Conclusions

Williams syndrome, deletion of 7q11.23, has ocular anomalies including a stellate pattern of the iris, refractive errors, amblyopia, and strabismus. Therefore, careful ophthalmic examination should be considered when children are diagnosed with Williams syndrome.

Keywords: Ocular manifestation, Retinal vascular tortuosity, Stellate pattern, Williams syndrome

Figures and Tables

Figure 1

Ocular manifestations in Case 1. (A) A stellate pattern of the iris and oval shape pupil were seen in both eyes. (B) Retinal vascular tortuosity was noted in both eyes.

jkos-58-1008-g001
Figure 2

Ocular manifestations in Case 2. (A) Anterior segment photographs showing a stellate pattern of the iris in both eyes. A stellate pattern of the iris is characterized by raised trabeculae at anterior to the usual stroma of the iris and these tabeculae seem to be more radial than normal iris. This pattern also has been described as ‘lacy or radial pattern’. (B) Retinal vascular tortuosity was also seen in fundus photographs.

jkos-58-1008-g002

Notes

Conflicts of Interest The authors have no conflicts to disclose.

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