Clinical Article

Clinical application of high-throughput sequencing (next-­generation sequencing, NGS) in the diagnosis of Usher syndrome

Share article
1 Institute of Human Genetics, Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany
2 Institute of Human Genetics, Uniklinik Köln, Cologne, Germany
3 Bioscientia Humangenetik, Ingelheim, Germany
Usher syndrome
next-generation sequencing
genetic testing
genetic counseling
genetic heterogeneity


The aim of this publication is to describe the clinical application of high-throughput sequencing (next-generation sequencing, NGS) and its advantages compared with Sanger sequencing using Usher syndrome as an example.

Material and Methods:

Genetic diagnostics is subject to rapid progress. The identification of disease-causing genetic alterations enables increasingly accurate diagnosis of hereditary diseases, making it possible to give affected individuals more precise information about the nature of the disease (course, treatment options, prognosis). Genetic diagnostics of patients and their relatives enables not only to determine the diagnosis of a disease, but its recurrence risk in the family.


Usher syndrome is an autosomal recessively inherited disorder, characterized by sensorineural hearing impairment and vision loss (due to retinitis pigmentosa). Several genes are known to be associated with 3 clinical subtypes of Usher syndrome. 


Advances in genetic diagnostics, including high-throughput sequencing (next-generation sequencing, NGS), today enable uncomplicated, quick and reliable diagnosis of genetic eye diseases such as Usher syndrome. Through their own diagnosis (or the diagnosis of their child), patients and families can be informed about the prognosis and use meaningful tools early on. Family members of an affected person can be tested for carriership.

Get a digital subscription now and read on!

With the digital subscription you have free access to all articles in German on the OCL website. A digital subscription is worthwhile with as few as six individual articles!

Show subscription options
Buy single item for 19,90€
Do you already have a digital subscription? Then log in here:

COE Multiple Choice Questionnaire

COE Multiple Choice Questionnaire

The publication "Clinical application of high-throughput sequencing (next-generation sequencing, NGS) in the diagnosis of Usher syndrome" has been approved as a COE continuing education article by the German Quality Association for Optometric Services (GOL). The deadline to answer the questions is 01. November 2024. Only one answer per question is correct. Successful completion requires answering four of the six questions.

You can take the continuing education exam while logged in.

Users who are not yet logged in can register for ocl-online free of charge here.