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Understanding photopsia and photophobia in Stargardt disease

Professor Omar Mahroo, UCL, Institute of Ophthalmology – £119,868 (co-funded with Retina UK)

People with Stargardt disease may experience flashing lights in their vision (photopsia) or discomfort due to bright light or glare (photophobia). Both have an impact on daily life but go unrecognised and under-researched by clinicians. This work aims to better understand the prevalence, impact and cause of these symptoms.

Understanding RPGR gene function in cone photoreceptors

Dr Roly Megaw, University of Edinburgh - £119,328 (co-funded with Retina UK)

Different mutations in the RPGR gene lead to quite different types of disease, affecting either the rod or cone photoreceptors, our light-sensing cells in the retina. This project aims to understand the function of the RPGR gene in photoreceptors, to understand why mutations lead to disease, and hopefully identify possible future treatment targets.

Investigating Stargardt disease as a target for gene repair

Professor Jacqueline van der Spuy, UCL, Institute of Ophthalmology - £120,000 (co-funded with Retina UK)

This project will test whether a novel gene editing technique can repair a mutation that leads to Stargardt disease. Currently there are no treatments for the condition, but gene editing and gene therapy are being investigated. The researchers are hoping to prove that a new technique called prime editing may be able to successfully fix mutations that lead to Stargardt disease, to treat the condition.

Developing eye drops that can reach the back of the eye

Dr Bridgeen Callan, Ulster University - £91,398

This research aims to see if drugs for wet age-related macular disease (AMD), delivered through eye drops, can make their way to the macula.

Finding a new test for early AMD

Dr Ashley Wood, Cardiff University - £99,858

Using new technology to learn about changes in vision and the eye that have been associated with early age-related macular degeneration (AMD). This research aims to find out why and how these changes occur, which could lead to new early AMD treatments.

Improving the integration of stem cell transplants in the retina

Prof Jane Sowden, University College London - £100,000

Stem cell therapy is a promising new area of research for a treatment for macular disease, but it is still in the experimental stage. It involves growing new retinal cells, developed from stem cells, which could then be implanted into the macula to replace lost or damaged cells.

Investigating how eye doctors discuss AMD with patients

Dr Tamsin Callaghan, City, University of London - £78,622

October 2019 - December 2023

Eye doctors are encouraged to mention the lifestyle changes that patients can make to slow the progression of age-related macular degeneration (AMD). However, this may not always be communicated or followed. This project aimed to improve communication to patients on lifestyle changes.

Stopping the build-up of toxic waste in dry AMD

Dr Arjuna Ratnayaka, University of Southampton - £100,000

With age-related macular degeneration (AMD), large amounts of toxic waste can build up in the cells of the retina. The toxic waste, called lipofuscin, is broken down by lysosomes, which are the healthy cells’ waste removal system.

Using gene editing to stop progression of Stargardt disease

Prof Robert MacLaren, University of Oxford - £119,610 (co-funded with Retina UK)

New research into a gene editing therapy for those with Stargardt disease is being undertaken at Oxford University. In Stargardt disease, a mutation in the ABCA4 gene means that the ABCA4 protein produced from the gene is faulty and this leads to sight loss. The project aims to develop a gene therapy to ensure healthy ABCA4 protein is made and further damage is prevented.

Real-life costs and benefits of wearable low vision aids

Dr Keziah Latham, Anglia Ruskin University - £99,976

This work will compare different low vision aids (LVA) and their use, cost-effectiveness and impact on quality of life. The aim is to enable people to make better decisions on what device is right for them, particularly considering the cost of some of the devices such as wearable technologies.