8th International Wolfram Symposium Presentation Dr Xuehao Cui – PhD student and research fellow University of Cambridge and Moorfields Eye Hospital
8th International Wolfram Symposium Presentation Dr Xuehao Cui – PhD student and research fellow University of Cambridge and Moorfields Eye Hospital
Exploring novel ocular biomarkers of disease in Wolfram syndrome
Abstract: Visual loss in Wolfram syndrome arises primarily due to the selective loss of retinal ganglion cells resulting in optic nerve degeneration. We are exploring various ocular imaging modalities that would provide us with additional non-invasive tools to monitor this process more closely in affected individuals. Progressive brainstem and cerebellar atrophy are also well-recognised neuroradiological features of Wolfram syndrome and these could potentially be assessed by more detailed eye movement recordings. Our objective is to validate ocular biomarkers of disease in Wolfram syndrome that are both applicable to clinical practice and as outcome measures for treatment trials.
Points noted:
• Aim to protect RGCs to stabilise vision / slow down vision loss.
• Currently exploring a number of approaches to assess vision [e.g. OcuMet
(ocular mitochondrial health); Flavoprotein fluorescence (early signs of mitochondrial dysfunction) Optical Coherence Tomography (OCT; different layers of the retina); eye movement recording (level of OA)].
• Recruiting patients (n=30) to a new study during May and June 2023; BWCH will refer patients to help boost numbers for the study.