Sanfilippo retinal study findings

16 Dec 2020

Is the eye a window to the brain in Sanfilippo? 

The findings of a National Health and Medical Research Council (NHMRC)-funded project, highlighting the potential for retinal imaging techniques to monitor treatment efficacy in Sanfilippo Syndrome, has been published.

Assoc. Prof. Kim Hemsley, who is a member of our Foundation’s Scientific Advisory Board, and her team at the Childhood Dementia Research Group at Flinders University, studied Sanfilippo in mouse models, examining whether the advancement of retinal disease parallels the signs seen in the brain.

The research showed that disease lesions appear in the retina very early in the disease course, much earlier than previously thought.

It is hoped retinal imaging will become a non-invasive way to determine how the disease is affecting the brain in Sanfilippo and to predict the rate of symptom onset. 

The paper, Is the eye a window to the brain in Sanfilippo syndrome?* has been published in Acta Neuropathologica Communications.

Read research paper here 

Read article on project here

*Please note, this research has not been funded by the Sanfilippo Children’s Foundation but is of great interest.