동공부등을 동반한 2형 와덴버그증후군 1예
A Case of Waardenburg Syndrome Type 2 With Anisocoria
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목적: 동공부등을 동반한 2형 와덴버그증후군을 경험하였기에 보고하는 바이다. 증례요약: 청각장애가 있는 53세 여자 환자가 좌안의 눈부심 및 눈동자 색깔 이상을 주소로 방문하였다. 최대교정시력은 우안 1.0, 좌안 0.7이었고, 좌안의 저색소성 홍채이색증, 우안의 부분적인 저색소성 홍채이색증, 안저검사상 양안 망막색소의 전반적인 감소와 저색소병변의 소견을 보였으며, 우안동공은 3 mm, 좌안 동공은 5 mm로 동공부등을 보였다. 순음청력검사상에서는 양측 감각신경성 난청의 소견을 보였다. 결론: 본 증례에서 홍채 저색소증이 더 심한 쪽에서 동공이 더 확대되어 있는 것으로 보아 동공수축근 발생에 기원하는 신경능선의 분화 이상이 와덴버그증후군 병인에 작용할 것으로 사료된다.
Abstract
Purpose: To report a case of Type 2 Waardenburg syndrome with anisocoria. Case summary: A 53-year-old woman with congenital deafness visited the clinic complaining of photophobia and heterochromic iris in the left eye. Her best-corrected visual acuity was 1.0 in the right eye and 0.7 in the left eye. The patient’s left eye showed complete iris hypopigmentation, and the right eye showed segmental iris hypopigmentation. Fundus examination demonstrated generalized decrease in retinal pigment with focal hypopigmented lesions in both eyes. The pupil sizes were 3 mm in the right eye and 5 mm in the left eye. A pure tone audiogram showed profound bilateral sensorineural hearing loss. Conclusions: In the present case, mydriasis was found to exist in a completely hypopigmented iris. Therefore, the neural crest from which the pupillary constrictor muscle originates may play a role in the pathogenesis of Waardenburg syndrome.
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