Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500. About 20-30% of these cases are syndromic, most notably Usher syndrome (USH), which combines hearing loss with visual impairment. Usher syndrome type 1 (USH1), the most severe form, presents at birth with profound sensorineural hearing loss, vestibular areflexia, and early-onset retinal degeneration. Biallelic mutations in the MYO7A gene, which define the USH1B subtype, account for 70% of USH1 cases. There is currently no treatment available for this serious condition. The objective of the study is to characterize the natural history of retinal degeneration in USH1B patients and to validate functional vision tests using virtual reality and patient-reported outcome questionnaires.
Age range
3 Years – 75 Years
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Best Corrected Visual Acuity (BCVA)
Timeframe: The BCVA is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. This assessment is taking 15 minutes.
Electroretinography (ERG)
Timeframe: The Retinal Degeneration Progression is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The ERG is taking 60 minutes.
Full-field stimulus testing (FST)
Timeframe: The Retinal Degeneration Progression is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The FST is taking 90 minutes.