Williams Syndrome with Ocular Manifestations.
10.3341/jkos.2017.58.8.1008
- Author:
Seung Ki LEE
1
;
Hyunkyu HONG
;
In Jeong LYU
Author Information
1. Department of Ophthalmology, Nowon Eulji Medical Center, Eulji University School of Medicine, Seoul, Korea. ijlyu@eulji.ac.kr
- Publication Type:Case Report
- Keywords:
Ocular manifestation;
Retinal vascular tortuosity;
Stellate pattern;
Williams syndrome
- MeSH:
Amblyopia;
Astigmatism;
Child;
Child, Preschool;
Esotropia;
Humans;
Iris;
Male;
Myopia;
Pupil;
Refractive Errors;
Retinaldehyde;
Strabismus;
Visual Acuity;
Williams Syndrome*
- From:Journal of the Korean Ophthalmological Society
2017;58(8):1008-1011
- CountryRepublic of Korea
- Language:Korean
-
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.
