Study of Vision Loss Progression and Function in Usher Syndrome Type 1B Caused by MYO7A Gene Mutations Using Virtual Reality and Patient Questionnaires

What this Trial Is About

Researchers are studying Usher syndrome type 1B USH1B, a severe inherited retinal disease caused by mutations in the MYO7A gene. USH1B leads to early-onset vision loss combined with profound hearing loss and balance issues. This research aims to understand how retinal degeneration progresses in patients with USH1B and to validate functional vision tests using virtual reality and patient questionnaires. Participants will undergo various diagnostic assessments, including vision tests like best corrected visual acuity and electroretinography, along with advanced retinal imaging methods such as optical coherence tomography and fundus autofluorescence. Functional vision will also be evaluated through virtual reality-based mobility and visual search tests. The study includes three age groups children aged 3-5 years, 6-13 years, and adults aged 14-75 years. During the study, participants will have regular visits over up to 48 months to assess their vision and retinal structure using standardized tests, imaging, and questionnaires. Functional vision tests will be conducted at specific intervals, including reproducibility visits and follow-ups at 24 months. Researchers will monitor changes in visual acuity, retinal function, structure, and patient-reported outcomes to better characterize the natural history of USH1B and validate new tools for assessing vision.

Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A