A Case of Usher Syndrome.
- Author:
Lee Suk KIM
1
;
Chi Sung HAN
;
Young Jun O
;
Dong Whan KIM
;
Jang Won HUR
Author Information
1. Department of Otolaryngology-Head & Neck Surgery, College of Medicine, Dong-A University, Pusan, Korea. Klsolkor@chollian.net
- Publication Type:Case Report
- Keywords:
Usher syndrome
- MeSH:
Deaf-Blind Disorders;
Diagnosis;
Hearing Loss;
Hearing Loss, Sensorineural;
Retinitis Pigmentosa;
Usher Syndromes*;
Western World
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2001;44(10):1112-1115
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The usher syndrome (US) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. It is the most common cause of the hereditary combined deafness-blindness in the western world. Three different types of US are recognized by clinical criteria. The US type I has severe to profound hearing loss, vestibular dysfunction, and prepubertally diagnosed retinitis pigmentosa, while the US type II has moderate to severe hearing loss, normal vestibular function, and later onset of retinitis pigmentosa. The US type III has a progressive hearing loss and retinitis pigmentosa with variable vestibular involvement. The diagnosis is confirmed by medical history and thorough otoscopical, audiologic, vestibular, and ophthalmological examinations. We have recently experienced a case of the US type I and report this with a brief review of the related literature.
