A Case of Type 2 Usher Syndrome.
- Author:
Sung Hyun BOO
1
;
Dong Jin PARK
;
Chi Sung HAN
Author Information
1. Department of Otorhinolaryngology-Head and Neck Surgery, Sungkyunkwan University School of Medicine, Masan Samsung Hospital, Masan, Korea. drboo@hanmail.net
- Publication Type:Case Report
- Keywords:
Usher syndrome;
Hearing loss;
Retinitis pigmentosa
- MeSH:
Adolescent;
Blindness;
Deafness;
Female;
Hearing Loss;
Hearing Loss, Sensorineural;
Humans;
Retinitis Pigmentosa;
Usher Syndromes;
Vision, Ocular
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2008;51(9):833-837
- CountryRepublic of Korea
- Language:Korean
-
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.
