Usher syndrome is an inherited condition that causes both hearing loss and progressive retinitis pigmentosa. It is a leading cause of combined deafness and blindness.
Types and symptoms
Severity and onset vary with genetic type.
- Type 1: congenital profound deafness, early balance problems, and childhood-onset night blindness
- Type 2: moderate congenital hearing loss with teenage-onset retinal degeneration
- Type 3: later-onset, progressive hearing and vision loss
- Retinal changes include night blindness, peripheral field loss, and tunnel vision
Management
There is no cure yet, so support focuses on function and safety.
- Early hearing aids or cochlear implants plus speech and language therapy
- Regular retinal monitoring, low-vision aids, and orientation/mobility training
- Genetic testing, counselling, and access to clinical trials when available
- Multidisciplinary support for education, employment, and mental health
