A Case of Type 1 Ushers Syndrome with Bilateral Cataract.

Lee, Seok Joon; Lee, Jong Hyuck; Choi, Yong Jun; Kim, Jong Wook

Case Report

Journal of the Korean Ophthalmological Society 1998;39(4):784-789.
Published online April 1, 1998.

A Case of Type 1 Ushers Syndrome with Bilateral Cataract.

Seok Joon Lee, Jong Hyuck Lee, Yong Jun Choi, Jong Wook Kim

Department of Ophthalmology, Yonsei University, Wonju College of Medicine, Wonju, Korea.

백내장이 동반된 유형 1 Usher 씨 증후군 1례

이석준(Seok Joon Lee),이종혁(Jong Hyuck Lee),최용준(Yong Jun Choi),김종욱(Jong Wook Kim)

Abstract

Ushers syndrome is an autosomal recessively inherited entity which is characterized by a retinitis pigmentosa and congenital sensorineural hearing loss. This syndrome represents different clinical features according to its subtypes. We experienced one case of type 1 Ushers syndrome, who had congenital hearing loss, visual field loss, visual loss of early childhood onset. We performed bilateral cataract extraction. Fundus examination after operation showed characteristic findings of retinitis pigmentosa. ERG was non-recordable ERG. Her audiogram confirmed the bilateral sensorineural hearing loss.

Key Words: Autosomal recessive;Total cataract;Retinitis pigmentosa;Ushers syndrome