|
KMID : 0361020080510090833
|
|
Korean Journal of Otolaryngology - Head and Neck Surgery
2008 Volume.51 No. 9 p.833 ~ p.837
|
|
|
A Case of Type 2 Usher Syndrome
|
|
Boo Sung-Hyun
Park Dong-Jin
Han Chi-Sung
|
|
|
Abstract
|
|
|
|
The Usher syndrome is an autosomal recessive disorder that cause bilateral sensorineural hearing loss and progressive loss of vision. It is genetically heterogeneous and is the most frequent cause of hereditary deafness and blindness in human. There are three types of Usher syndrome that can be distinguished clinically and into different subtypes. Type 2 Usher syndrome is the most common form and less severe than Type 1. It is characterized by congenital, moderate to severe, high frequency sloping hearing loss, retinitis pigmentosa which is typically diagnosed in late adolescence, and normal vestibular function. Recently, we have experienced a case of clinically diagnosed Type 2 Usher syndrome in a 34 years old female. We report this case with a brief review of literature. This is the first Type 2 Usher Syndrome to be reported in the otolaryngologic field in Korea.
|
|
|
KEYWORD
|
|
|
Usher Syndrome, Hearing loss, Retinitis pigmentosa
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|