Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials.
• Patient with a molecular diagnosis of Usher syndrome type I, II or III or a clinical diagnosis of Usher syndrome type I, II or III which will then be confirmed by a molecular diagnosis
• Health insurance beneficiary
• Informed consent signed by the patient or their legal representatives