안과적 이상을 동반한 Williams 증후군 2예
Williams Syndrome with Ocular Manifestations
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목적: Williams 증후군(Williams syndrome)에서 나타나는 안과적 이상에 대한 연구가 국내에 보고된 바가 없기에 2예를 보고하고자 한다. 증례요약: Williams 증후군을 진단받은 5세 남아가 안과 검진을 위하여 내원하였다. 최대교정시력은 우안 0.6, 좌안 0.6이었으며, 양안근시성 난시와 8프리즘 디옵터의 내사시가 있었다. 또한 양안 성상의 홍채 기질 소견과 망막혈관 구불거림 증가가 관찰되었다. 다른 증례는 Williams 증후군을 진단받은 8세 남아로 양안 근시가 있었고 최대교정시력은 우안 0.7, 좌안 0.4였다. 세극등현미경검사상 양안 성상의 홍채 기질 소견과 망막혈관 구불거림 증가를 확인할 수 있었다. 결론: Williams 증후군은 특징적인 홍채소견 및 굴절이상, 사시, 약시 등 안과적 이상을 동반할 수 있는 유전 질환으로 진단 시 안과적 검사가 필요하다.
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.
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