Williams Syndrome with Ocular Manifestations.

Lee, Seung Ki; Hong, Hyunkyu; Lyu, In Jeong

doi:2017.58.8.1008

J Korean Ophthalmol Soc > Volume 58(8); 2017 > Article

Case Report

Journal of the Korean Ophthalmological Society 2017;58(8):1008-1011.
DOI: https://doi.org/10.3341/jkos.2017.58.8.1008 Published online August 15, 2017.

Williams Syndrome with Ocular Manifestations.

Seung Ki Lee, Hyunkyu Hong, In Jeong Lyu

Department of Ophthalmology, Nowon Eulji Medical Center, Eulji University School of Medicine, Seoul, Korea. ijlyu@eulji.ac.kr

안과적 이상을 동반한 Williams 증후군 2예

이승기⋅홍현규⋅유인정

을지대학교 의과대학 을지병원 안과학교실

Correspondence: In Jeong Lyu,
Email: ijlyu@eulji.ac.kr

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

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.

Key Words: Ocular manifestation;Retinal vascular tortuosity;Stellate pattern;Williams syndrome