Infantile nystagmus is an early childhood condition where the eyes don’t develop steady fixation on a target and instead, involuntarily wobble to and fro. For many children, it is a relatively benign condition and patients are able to thrive. However, there is a small portion of children who present with infantile nystagmus that have another underlying eye condition, like albinism, foveal hypoplasia or childhood retinal dystrophies.
Each of these conditions can have a genetic basis and now, thanks to support from the Professor Frank Billson Research Scholarship, established by Shelley Kline and made possible through generous donors, The Royal Children’s Hospital (RCH) Ophthalmology Department is investigating how genetic testing can reduce the diagnostic journey of children with infantile nystagmus.
Jon Ruddle is an ophthalmologist at the RCH and one of the inaugural recipients of the Professor Frank Billson Research Scholarship. For Jon, the area of paediatric vision and in particular, the genetic causes of vision loss, is something he is incredibly passionate about.
Thanks to funding from the Professor Frank Billson Research Scholarship, Jon will be able to further explore his passion area, seeing if genetic testing can alter the management of infantile nystagmus.
“Nystagmus presenting during infancy can have many possible underlying causes. For the families of affected children, long diagnostic journeys filled with anxiety are unfortunately common place,” said Jon.
“The pathway towards a diagnosis often can be overwhelming for families, with the involvement of paediatricians, paediatric neurologists, hospital admission, general anaesthetic to obtain an MRI scan, and careful ocular imaging such as optical coherence tomography or electroretinography. Parents are also often worried about what impact the eye movement abnormality will have on their child’s future visual potential,” he added.
Utilising data available on the hospital’s Electronic Medical Record system, Jon will identify patients who received a diagnosis of infantile nystagmus within a specified date range. Once families have consented to being involved in the study, Jon and his colleagues will undertake a simple blood test or saliva swab and then utilise an exome-wide genetic sequencing approach to rapidly assess the child’s genes and look for potential mutations that may be causing the nystagmus.
“Advances in technology, which have reduced the once prohibitive financial costs and time associated with genetic testing, mean that new opportunities now exist, and exome sequencing tests can now yield diagnostic information that, in the past, would only have been understood in hindsight. We’re also seeing more prospective parents are increasingly receiving testing prior to conceiving to detect if they carry any genetic variants of concern,” said Jon.
“Our aim is to use this genetic testing to not only try and shorten that diagnostic journey for parents, but to add to our understanding of the genetic drivers of infantile nystagmus and reduce the need for invasive testing including MRI scans.”
“We also want to help parents get a better grasp on what their future potential vision is going to be, and what sort of support the child might need in preschool or school. Eventually, we may also be able to use these results to better inform prospective parents undergoing pre-conception genetic testing that includes genes linked to eye conditions,” he added.
For Jon, being a recipient of the Professor Frank Billson Research Scholarship is an incredible privilege.
“I am honoured to have this scholarship provide funding to this project. Not only am I incredibly passionate about making a difference in the lives of children and young people, I am also passionate about seeing the Ophthalmology Department at the RCH thrive and reach its potential with research. There are some great centres around the world that have got a track record in this area, but I think we are well placed to chase them down. The Professor Frank Billson Scholarship will support us in this.”
“I am also so grateful to the donors who have supported this scholarship. It shows that people share our vision in pushing forward research in this space, and we are so grateful to them for helping us better understand children’s vision issues,” he added.Donate to the Professor Frank Billson Research Scholarship