Paediatric Usher Syndrome: Navigating a challenging landscape

Usher syndrome is a rare genetic condition that causes hearing loss and progressive vision loss. It is the leading cause of hereditary deafblindness. While more children are now being diagnosed early through genetic testing, the progressive nature of the vision loss means that Usher syndrome is often overlooked in childhood deafblindness statistics. As a result, families often struggle to get the services and support they need.

Our new article highlights the urgent need to rethink how we define and assess deafblindness for children with Usher syndrome. These children face unique challenges — they start life with hearing loss, but vision loss develops gradually, affecting communication, learning, mobility, and social development.

We call for children with Usher syndrome to be included in deafblindness data at the time of their Usher syndrome diagnosis, even if vision loss has not yet fully developed. Early identification is critical. It means families can access timely, coordinated support from a range of specialists — including hearing, vision, mobility, and education experts — helping children build vital skills and confidence from an early age.

The article also discusses the emotional and psychological impact of an Usher syndrome diagnosis on children and families. While early diagnosis can be overwhelming, it can also empower families to plan for the future, access therapies sooner, and build strong foundations for their child’s development and well-being.

Right now, children with Usher syndrome are often caught between two worlds — straddling two systems that rarely meet: hearing support on one side, vision loss on the other. When children with Usher syndrome aren’t recognised in the numbers, they’re lost in the margins. The system waits for them to go blind before they are seen. We must change that.

By recognising the unique needs of children with Usher syndrome early and implementing the right supports, we have the opportunity to change their trajectory of likely unemployment and high rates of mental health challenges. Early diagnosis and a transdisciplinary, person-centred approach can lay the foundation for young people with Usher syndrome to access meaningful education, employment, connection, and wellbeing in adulthood.

When we act early and inclusively, we don’t just give them support — we give them the chance to thrive.

To read the full article:
Maxwell, G., Meekins-Doherty, L., Silveira, S., Shepard, E., Prain, M., & Harper, L. (2025). Paediatric Usher Syndrome: Navigating a challenging landscape. British Journal of Visual Impairment. https://doi.org/10.1177/02646196251331807