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KMID : 0360220170580081008
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Journal of the Korean Ophthalmological Society
2017 Volume.58 No. 8 p.1008 ~ p.1011
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Williams Syndrome with Ocular Manifestations
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Lee Seung-Ki
Hong Hyun-Kyu
Lyu In-Joeng
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Abstract
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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.
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KEYWORD
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Ocular manifestation, Retinal vascular tortuosity, Stellate pattern, Williams syndrome
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