PURA Foundation Australia
Understanding Vision in PURA Syndrome
While PURA syndrome is best known for its impact on brain development, epilepsy and communication, many individuals also experience vision related challenges.
The retina, located at the back of the eye, is an extension of the central nervous system. Because the PURA gene is active in nerve cells throughout the body, including the retina, researchers are exploring whether changes in retinal function may contribute to some of the visual issues seen in PURA syndrome.
This study will use electroretinography (ERG) and the visually evoked potential (VEP), which are safe, non-invasive tests that measure how the retina responds to light and how well the visual signal gets to the brain. Unlike many vision assessments, ERG and VEP do not rely on verbal communication or behavioural responses, making it well suited for individuals with complex neurodevelopmental conditions such as PURA syndrome.
By studying retinal and visual pathway function, researchers hope to better understand whether vision differences in PURA syndrome arise from changes within the retina itself and how this affects signals getting to the brain. This research may also identify biomarkers that improve our understanding of the condition and support the development of future therapies.
This is the first study to systematically investigate retinal and visual pathway function in people living with PURA syndrome. The findings will contribute to a growing body of research aimed at understanding the full clinical features of PURA syndrome and, ultimately, improving care and outcomes for individuals and families.
Study age range is 6 months - 20 years old
Melbourne Location
Melbourne Eyecare Clinic
200 Berkeley St, Carlton VIC 3053.
Brisbane Location
TBA
Sydney Location
TBA
Auckland Location
TBA
A vision questionnaire will be sent to families before they attend or can be filled out during testing. Approximately 5-10 minutes to fill.
Click flyer to download
To be involved in this research project, please email
Dr Georgina Liapis at gliapis@student.unimelb.edu.au
A genetic report including PURA diagnosis or letter from a clinician confirming so will be required.
Dr Georgina Liapis is a therapeutically endorsed optometrist with particular interest in children’s vision. Georgina has been caring for children’s vision for over 5 years and actively manages children with a wide range of visual concerns in the clinic. This research forms part of Georgina’s PhD.
Participants can opt in to have an individualised report sent to them via password protected email.
Research is creating new knowledge. #PURAresearch