The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.
Markova T.G.
National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education
Alekseeva N.N.
National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education
Belov O.A.
National Research Centre for Audiology and Hearing Rehabilitation
Chugunova T.I.
National Research Centre for Audiology and Hearing Rehabilitation
Tsygankova E.R.
Russian Scientific and Clinical Center for Audiology and Hearing Prosthetics of the Federal Medical and Biological Agency;
Russian Medical Academy for Continuous Professional Education
Hearing loss due to mutations in the genes responsible for Usher syndrome
Journal: Russian Bulletin of Otorhinolaryngology. 2022;87(1): 52‑59
Read: 5502 times
To cite this article:
Markova TG, Alekseeva NN, Belov OA, Chugunova TI, Tsygankova ER. Hearing loss due to mutations in the genes responsible for Usher syndrome. Russian Bulletin of Otorhinolaryngology.
2022;87(1):52‑59. (In Russ.)
https://doi.org/10.17116/otorino20228701152
Usher syndrome is characterized by congenital bilateral sensorineural hearing loss and progressive retinitis pigmentosa, and has an autosomal recessive type of inheritance. The purpose of this work is to summarize the modern data of a clinical picture of Usher syndrome and analyse hearing impairment properties. The frequency of the syndrome among children suffering from hearing loss and deafness is from 3 to 10%. The prevalence of the syndrome in the world is estimated as 4.4 per 100.000 population. The complexity of the diagnosis of the syndrome lies in the significant clinical and genetic heterogeneity. Hearing and vision problems begin at different ages. Primary diagnosis begins with the clinical diagnosis of bilateral hearing loss and visual impairment manifests later. In this case the initial diagnosis of nonsyndromal hearing loss will not be definitive. Molecular genetic studies contribute to the early clinical diagnosis of the syndrome. Understanding the cause of the disease allows to conduct correct medical and genetic counseling and get closer to solving treatment problems.
Keywords:
Authors:
Markova T.G.
National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education
Alekseeva N.N.
National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education
Belov O.A.
National Research Centre for Audiology and Hearing Rehabilitation
Chugunova T.I.
National Research Centre for Audiology and Hearing Rehabilitation
Tsygankova E.R.
Russian Scientific and Clinical Center for Audiology and Hearing Prosthetics of the Federal Medical and Biological Agency;
Russian Medical Academy for Continuous Professional Education
Received:
09.02.2021
Accepted:
22.04.2021
List of references:
Close metadata
Email Confirmation
An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.
Email Confirmation
Log in to the site using your account in one of the services
We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.