Genetic testing for Usher syndrome

Andi Abeshi 1 , 2 , Alice Bruson 2 , Tommaso Beccari 3 , Munis Dundar 4 , Leonardo Colombo 5 ,  and Matteo Bertelli 6 , 7
  • 1 MAGI Balkans, , Tirana, Albania
  • 2 MAGI’S Lab, , Rovereto, Italy
  • 3 Department of Pharmaceutical Sciences, University of Perugia, , Perugia, Italy
  • 4 Department of Medical Genetics, Erciyes University Medical School, , Kayseri, Turkey
  • 5 Department of Ophthalmology, ASST Santi Paolo e Carlo, University of Milan, , Milan, Italy
  • 6 MAGI’S Lab, , Rovereto, Italy
  • 7 MAGI Euregio, , Bolzano, Italy


We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN genes. Prevalence is estimated to be 1:30,000. Clinical diagnosis is based on audiogram, vestibular tests, visual acuity test, fundus examination, color test, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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