Longitudinal Analysis of Inherited Retinal Degeneration Along the Visual Pathway

Research details

  • Type of funding: Fight for Sight / Tommy Salisbury Fund Small Grant Award
  • Grant Holder: Dr Jasleen Jolly
  • Institute: Anglia Ruskin University
  • Region: East of England
  • Start date: December 2021
  • End Date: May 2024
  • Priority: Understanding
  • Eye Category: Inherited Eye Disease
Brief plain language background

Inherited eye diseases are conditions affecting the eye which are caused by a fault (mutation) in a gene.

Leber congenital amaurosis is a group of inherited eye conditions, causing the light-sensing cells (photoreceptors) in the retina to stop working properly, resulting in blindness or severe sight loss in early childhood.

What problem/knowledge gap does it help address

The light-sensing photoreceptor cells in the retina convert light energy to electrical signals, which are transmitted via the optic nerve to the brain, allowing us to see when functioning properly. If the light sensing cells are damaged, then the visual system in the brain may not be activated correctly, resulting in blindness.

There is currently no research combining brain and eye measurements in response to inherited retinal conditions, or MRI scan data monitoring changes in the brain before and after gene therapy.

Studying LCA before and after Luxtuma treatment, the only NHS licensed gene therapy treatment at the time of writing, could improve understanding of treating the retina on the rest of the visual system.

Aim of the project

This project is the second part of an investigation. The first project examined changes in the visual brain following visual field loss caused by inherited retinal conditions.

This project will explore how the visual brain responds to treatment of the retina via gene therapy.

Key procedures/objectives
  1. Collect visual function, retinal structure and visual brain data from participants before and after Luxtuma gene therapy treatment.
Potential impact on people with sight loss

Understanding the visual brain’s reaction to retinal changes could be used to help people who are not suitable for gene therapy to make the most of their vision. Examining whether the visual brain changes are related to the success of treatment could potentially improve the result of the gene therapy treatment.

Knowledge of these processes and responses to treatment could be utilised in further research across a range of inherited retinal conditions.