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
Study Type
OBSERVATIONAL
Enrollment
100
CHU, Laboratoire de génétique moléculaire, INSERM
Montpellier, France
RECRUITINGCIC of CHNO des Quinze-vingts
Paris, France
RECRUITINGJohannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz
Mainz, Germany
RECRUITINGRadboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology
Nijmegen, Netherlands
RECRUITINGAIBILI, 4C - Coimbra Coordinating Centre for Clinical Research
Coimbra, Portugal
RECRUITINGIBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory
Coimbra, Portugal
RECRUITINGGenotype and phenotype correlations in Usher syndrome patients
Protocol outline: patients undergo clinical and molecular studies. These include extensive ophthalmologic (best corrected visual acuity, refraction, tonometry, color vision, visual field testing, pupillography\*, full-field electroretinogram, multifocal electroretinogram, autofluorescence imaging, optical coherence tomography, adaptive optics\*) examination, audiologic and vestibular evaluation and obtaining blood samples for genetic analysis. \*only if available
Time frame: up to 3 years (2016)
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