2018년 2월 9일 금요일

Usher's syndrome

Usher's syndrome

Usher syndrome(- Shōsho,,: Usher Syndrome) is relatively rare, so it accompanies pigment degeneration. Currently, it is known that 10 mutations are caused. Treatment methods are not established at present, but experiments are proceeding using them so that they can be repaired in the future.

table of contents

Symptom

Usher syndrome is characterized by deafness and gradually being lost. The cause of hearing loss is due to obstruction of vision, but the obstacle of vision is caused by denaturation of cells of the cause. Usually, the retina is first obstructed, this happens, and peripheral vision is gradually lost. Meanwhile, because of being lost before, the central vision may be lost.

Clinically, it is classified into three types, called Type I, II, III.

Type I

Type I 's Usher syndrome, born almost unnoticed, and begins early. Patients with this type of illness are slow to begin walking because they also have a disability (due to abnormality).

Type II

Type In the case of Usher syndrome of II, it is not that we can not hear the native sound at all, but there is still hearing loss. There is no obvious obstacle in equilibrium sense. Eyesight will also begin to be lost by the age of 10, but sometimes it keeps some vision until middle age.

Type III

In the case of Type III 's Usher syndrome, there is no inherent deafness but gradually hearing and vision are lost. The sense of equilibrium has both the case of being impaired and the case of not being impaired.

Causative gene

Type I causative gene

  • CDH 23
  • MYO 7 A
  • PCDH 15
  • USH 1 C
  • USH 1 G

All of these genes are related to the occurrence and maintenance of structure, and play important roles especially in the function of transmitting sound and movement signals to the brain. These genes also play important roles in retinal development and maintenance.

Type II cause genes

  • USH 2A
  • GPR 98
  • DFNB 31

Type III cause genes

  • USH 3 A

history

Usher syndrome is a British ophthalmologist Charles It was named by Usher. Usher is doing pathological and genetic reports on 69 patients in 1914. In fact, however, the same symptoms were observed in 1858 by an ophthalmologist It has already been reported by Albrecht von Gräfe.

External link

This item is related to***. I will do (/). — | —

Acquired from ""

Post Date : 2018-02-09 07:30

This article is taken from the Japanese Wikipedia Usher's syndrome

This article is distributed by cc-by-sa or GFDL license in accordance with the provisions of Wikipedia.

Wikipedia and Tranpedia does not guarantee the accuracy of this document. See our disclaimer for more information.

In addition, This site is simply not responsible for any show is only by translating the writings of foreign licenses that are compatible with CC-BY-SA license information.

0 개의 댓글:

댓글 쓰기