Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe

European Research Projects on Rare Diseases Driven by Young Investigators

This study aims to characterize Usher patients in order to correlate this data with genetic information.

Tasks:

• Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and otological function in association with genotype that enable to determine the most significant markers for Usher disease progression and therapeutic effect.
• Perform genotype and phenotype correlations in Usher syndrome patients
• Develop and maintain database for phenotypically and genotypically well-characterized patient cohorts, suitable for future therapeutic trials

Inclusion criteria :

• Clinical characteristics for USH1, USH2 and USH3 as defined by the Usher syndrome consortium;
• Informed consent and agreement to participate in the study;
• Distance best corrected visual acuity ≥ 0.1.

Exclusion criteria:

• Systemic pathologies or severe ocular pathologies, systemic or topical medication usage, and/or other otolaryngology pathologies which could contaminate the results;
• Unwillingness to provide a blood sample ;
• Unwilling and/or unable to undergo the study procedures.