[Hearing loss due to mutations in the genes responsible for Usher syndrome].

Autor:	Markova TG; National Research Centre for Audiology and Hearing Rehabilitation, Moscow, Russia.; Russian Medical Academy for Continuous Professional Education Audiology Department, Moscow, Russia., Alekseeva NN; National Research Centre for Audiology and Hearing Rehabilitation, Moscow, Russia.; Russian Medical Academy for Continuous Professional Education Audiology Department, Moscow, Russia., Belov OA; National Research Centre for Audiology and Hearing Rehabilitation, Moscow, Russia., Chugunova TI; National Research Centre for Audiology and Hearing Rehabilitation, Moscow, Russia., Tsygankova ER; National Research Centre for Audiology and Hearing Rehabilitation, Moscow, Russia.; Russian Medical Academy for Continuous Professional Education Audiology Department, Moscow, Russia.
Jazyk:	ruština
Zdroj:	Vestnik otorinolaringologii [Vestn Otorinolaringol] 2022; Vol. 87 (1), pp. 52-59.
DOI:	10.17116/otorino20228701152
Abstrakt:	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.
Databáze:	MEDLINE
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