“Usher syndrome,” she told The Guardian, was all she managed to write down when genetic test results arrived over the phone during the Covid pandemic.
Poppy Stevens was seven months old when routine testing revealed the inherited condition, which causes hearing loss and progressive vision loss, The Guardian reported. The diagnosis prompted her parents, Ben and the author, to decide against having a third child to focus their resources on Poppy and her older sister Evie.
Genetic Testing Reveals Usher Syndrome Type 2A
Poppy was born with hearing loss that required hearing aids, leading her family to seek genetic testing to understand the cause before considering another child. The subsequent test revealed Usher syndrome type 2A, the leading cause of deafblindness in Australia, impacting about 1 in 6,000 children.
Children with the condition are born with hearing loss and progressively lose their vision during adolescence and adulthood. No treatment currently exists for the vision loss, which typically begins with night vision problems in the teen years and narrowing peripheral vision around the 30s.
Finding Support in the Deaf Community
The family initially faced uncertainty about Poppy’s ability to drive, study, and work independently. However, connection with the deaf community and an UsherKids Australia conference in Melbourne provided perspective through panels of teenagers and young adults living with the condition.
“We’d found our footing once. We knew we’d find it again,” the author told The Guardian regarding the adjustment process.
Scientific Research Offers Hope for the Future
Medical researchers in Melbourne are currently working on gene and cell therapies to address the vision loss associated with Usher syndrome. The Centre for Eye Research Australia houses scientists developing gene and cell treatments, building on a local history of medical innovation that includes Graeme Clark and his team using a multichannel cochlear implant in 1978 to produce hearing sensations in an adult with total hearing loss, The Guardian reported.
Prof Rick Liu, CERA’s head of genetic engineering, founded the spinout company Adara Bio to develop an RNA-editing platform called EDITRA. The platform aims to correct the genetic spelling mistake causing Poppy’s type of Usher syndrome via a single eye injection, though the treatment remains in the laboratory stage.
Questions About Usher Syndrome Type 2A Causes and Vision Loss
What causes Usher syndrome type 2A?
The condition is caused by a genetic mutation inherited from parents, resulting in a faulty gene that leads to congenital hearing loss and progressive vision loss.
When does vision loss typically begin?
Night vision problems usually start during the teenage years, with peripheral vision narrowing further around a person’s 30s, though the timeline varies by individual.
Are there current treatments for the vision loss?
There is currently no approved treatment for the vision loss associated with Usher syndrome, but researchers are developing experimental gene and RNA-editing therapies.