A Case of Usher Syndrome / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
;
: 1112-1115, 2001.
Artigo
em Coreano
| WPRIM
| ID: wpr-644361
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Retinose Pigmentar
/
Ocidente
/
Diagnóstico
/
Síndromes de Usher
/
Surdocegueira
/
Perda Auditiva
/
Perda Auditiva Neurossensorial
Tipo de estudo:
Estudo diagnóstico
Idioma:
Coreano
Revista:
Korean Journal of Otolaryngology - Head and Neck Surgery
Ano de publicação:
2001
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS