We’re funding a new PhD studentship that hopes to drive forward the understanding of Leber hereditary optic neuropathy using powerful, cutting-edge neural imaging techniques and international scientific collaboration.

The challenge

Leber Hereditary Optic Neuropathy (LHON) is a disease that affects the neural connections between the retina and the brain, causing major, rapid vision loss. The disease generally presents itself in late childhood and currently has no cure.

Imaging connections between the eye and the brain

Learn more

How is light that hits our eyes translated into the images that we see? And how can we better understand how that process works or goes wrong in disease?

  • Firstly, cells in the back of the eye sense the light waves and convert them into electrical signals.
  • These signals are then sent through the optic nerve - a bundle of over a million nerve fibres - to the brain, just like how your broadband internet travels to your homes through fibres.
  • The visual cortex of the brain receives these signals and sends them on to other brain regions that translate them into a perception of images.

Magnetic resonance imaging (MRI) is commonly used to provide detailed images of the brain. Imaging connections between the retina and brain is difficult as these structures are so small. However, new advanced imaging and analysis techniques can make it possible. These methods can then be used to better understand diseases that affect the optic nerve, like LHON.

Although it is known that the disease disrupts the neural link between the eye and the brain, the cause and characteristics of this change are poorly understood. Moreover, and crucially, the precise relationship between neural changes and loss of sight is unclear. For example, it is not known how a child’s genes relate to the structure and function of neural cells, or how this in turn impacts disease onset or potential treatment.

With this knowledge, clinicians would be better able to support patient treatment and more accurately predict their outcomes. 

Finding a solution

This PhD studentship will allow a Hugo Chow-Wing-Bom, a budding researcher, to be trained in MRI scanning, as well as how to interrogate the resulting data. 

Hugo will take MRI scans at different points in disease development so that the they can understand how progressive changes in the neural connections correlate with changes in vision.

I am excited about this unique opportunity to learn and develop new technologies with world-renowned clinicians and scientists toward better understanding of the mechanisms underlying eye diseases such as Leber Hereditary Optic Neuropathy, and inform the development of innovative treatments.

Hugo Chow-Wing-Bom, PhD student on the project, standing in front of an MRI scanner

To get enough meaningful data for such a rare disease Hugo will work with Dr Tessa Dekker, who is building a team of international collaborators to integrate a large set of LHON MRI data. Data will be shared by teams in the UK and Beijing, where collaborators Dr Junqing Wang and Professor Shihui Wei have been collecting key LHON MRI scans.

Hugo will be able to use this information to understand the dynamic changes in the neurones and address questions of possible repair mechanisms. 

Hugo will also aim to create MRI-based tests of visual cortex function – how the brain is recognising light from the eye – in LHON patients over time. This would be a powerful tool to use in measuring the effectiveness of any future clinical trials for novel LHON therapies.

The potential

This PhD studentship will not only train new academic talent in innovative ophthalmic neuroimaging research, but also generate a significant LHON MRI dataset. Furthermore, it will help establish Moorfields Eye Hospital and UCL Institute of Ophthalmology as a hub for LHON MRI research. The findings from the project aim therefore support greater understanding of the relationship between neural changes and loss of vision in children with LHON.

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Up to 1 in 15,000

people are affected by LHON

By employing such a collaborative approach and cutting-edge methodologies, the team will be able to investigate the nature of neural tissue loss directly in LHON patients. This would offer an innovative new visual cortex function test for LHON, thereby paving the way to accurately assess future clinical trials.

Project Details

Funding scheme

PhD Studentship

Grant holder

Dr Tessa Dekker

Area(s) of work

Genetics/​inherited eye disorders, neuro-ophthalmology/optic neuropathies

Award level

£110,000

Start date

April 2021

Grant reference

GR001315