Two Cases Usher's Syndrom in two Brothers.

Kim, Kyung Hwan; Lee, Sang Jun; Lee, Ho Kyung

Case Report

Journal of the Korean Ophthalmological Society 1995;36(1):153-159.
Published online January 1, 1995.

Two Cases Usher's Syndrom in two Brothers.

Kyung Hwan Kim, Sang Jun Lee, Ho Kyung Lee

¹Department of Ophthalmology, Capital Armed Force General Hopital, Seoul, Korea.
²Department of Ophthalmology, College of Medicine, Inje University, Seoul Baik Hospital, Seoul, Korea.

형제에서 발생한 Usher 씨 증후군 2 예

김경환(Kyung Hwan Kim),이상준(Sang Jun Lee),이호경(Ho Kyung Lee)

Abstract

Usher's syndrome is an autosomal recessively inherited trait that characterized by a congenital nonprogressive sensorineural hearing impairment and progressive night-blinding disorder, retinitis pigmentosa, with cataract, psych psis, speech disorder, mental deficiency, and vestibular ataxia being variable additional findings. We experienced two cases of Usher's syndrome in two brothers, which has the hearing loss and night-blinding disorder that had been developed since in early childhood and 2nd decade respectively. Their ophthalmoscopic retinal and ERG findings are characteritic ones of retinitis pigmentosa. such as 1) bone corpuscle pigmentation in the periphery, narrow arteries, and a waxy, yellowish optic, disc, 2) non-recordable ERG, respectively. Their pure tone automatry confirmed the bilateral sensorineural hearing loss.

Key Words: Autosomal recessive;sensorineural hearing loss;retinitis pigmentosa;Usher's syndrome