Usher syndrome as the most frequent cause of coexisting sight and hearing disorders genetically determined

• Authors: Barbara Jamróz , Maria Pabian , Magdalena Lachowska , Kazimierz Niemczyk

Abstracts

EN

Usher syndrome is the most frequent cause of coexisting sight and hearing disorders genetically determined. Depending on the type of the symptoms, we can single out 3 types of Usher syndrome. Among them the most ad-vanced changes are described in first type. In final stage it leads to deafness and blindness with possible balance dis-orders.This syndome is inherited in autosomal recessive way, but we have to note the occurence of genetical heterogeneity. It causes big diversity of symptoms intensification. Correct diagnosis is important in view of giving genetical advice and eventual diagnostic and terapeutic procedure.

Keywords

EN

usher syndrome; retinitis pigmentosa; genetically determined hearing loss

• Journal: Polski Przegląd Otorynolaryngologiczny
• Year: 2016
• Volume: 5(1)
• Pages: 41-46

Contributors

author

Barbara Jamróz

author

Maria Pabian

author

Magdalena Lachowska

author

Kazimierz Niemczyk