Functional MRI as a Potential Predictive Tool in Leber Hereditary Optic Neuropathy

Overview

Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disorder that causes bilateral severe loss of vision mostly in young adult men. The loss of vision is due to degeneration of the optic nerve, which is the specialised cable that transmits visual information from the eye to the vision centres in the brain. Although the visual prognosis is poor, a proportion of patients will experience partial visual recovery and this usually occurs within one year of disease onset. We still do not have a clear understanding of the changes that occur along the visual pathways and within the brain as the disease progresses in LHON. It is also not possible to predict who will regain vision and the extent of recovery, which is challenging when discussing the prognosis with patients and their families.

This research project will make use of a powerful scanner, known as functional MRI, to get high-resolution “real time” imaging of the visual pathways from the eye all the way back to the vision centres in the brain. This non-invasive procedure will be carried out when a patient has just started losing vision from LHON and it will then be repeated 6 and 12 months later.

This research project will map out the chronological changes that occur along the visual pathways and within the brain after the onset of visual loss in LHON. The researchers will explore whether functional MRI could prove useful as an assessment tool in future treatment trials. Importantly, the knowledge gained will help provide more accurate counselling to patients with LHON.