Type IV Ushers Syndrome Manifested by Woman.

Kim, Song Hak; Koo, Han Mo; Chung, Sung Kun

Original Article

Journal of the Korean Ophthalmological Society 1997;38(7):1289-1293.
Published online July 1, 1997.

Type IV Ushers Syndrome Manifested by Woman.

Song Hak Kim, Han Mo Koo, Sung Kun Chung

Department of Ophthalmology, St. Marys Hospital, The Catholic University of Korea, Seoul, Korea.

여자에서 나타난 IV형 Usher 씨 증후군

김송학(Song Hak Kim),구한모(Han Mo Koo),정성근(Sung Kun Chung)

Abstract

Ushers syndrome is an autosomal recessively inherited trait that characterized by progressive retinitis pigmentosa combining night blindness with a congenital, nonprogressive sensorineural hearing impairment of variable severity. Speech disorder, vestibular ataxia, mental deficiency, psychosis, and cataract are usually present. We experienced a case of type IV Ushers syndrome in 28 year-old woman that showed the night blindness with decreased visual acuity that had been developed 7-8 years before and congenital sensorineural hearing loss. In fundoscopic examination, characteristic bone corpuscle pigmentation in the periphery, and narrow arteries are found. Her electroretinogram and pure tone audiometric findings show non recordable wave forms and bilateral sensorineural hearing loss. She has mild mental retardation also.

Key Words: Retinities pigmentosa;Sensorineural hearing loss;Ushers syndrome