About Usher Syndrome
Usher Syndrome is the most common cause of combined deaf-blindness, characterised by sensorineural hearing loss present at birth or in early childhood and progressive retinitis pigmentosa that typically begins in adolescence. Three clinical types are distinguished by the degree and onset of hearing loss, the presence of vestibular dysfunction, and the age of visual symptom onset, with Type 1 being most severe. Mutations in at least 10 genes encoding proteins of the Usher protein complex, which maintains the structural integrity of photoreceptors and cochlear hair cells, are responsible.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Usher Syndrome trials.
Specify your Usher type and causative gene in trial applications; USH2A-targeted therapies and MYO7A gene therapy trials have distinct eligibility criteria based on subtype.
Audiological records and vestibular assessment reports are often required alongside ophthalmological data; compile a complete multidisciplinary file before screening.
Cochlear implant history does not typically exclude patients from retinal-focused trials, but always disclose device implants during the screening interview.
Patient Resources
Find recruiting Usher Syndrome trials
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