Exploring rod and cone dysfunction in Stargardt disease

Professor Omar Mahroo - UCL, Institute of Ophthalmology – £119,650

This research project aims to improve our understanding of Stargardt disease, the most commonly inherited macular condition. By studying the ABCA4 gene and its effects on retinal cells, the research could reveal new ways to slow or prevent vision loss.

What is the problem?

Mutations in the ABCA4 gene cause Stargardt disease, leading to the buildup of a waste material called lipofuscin. This substance damages the retina’s light-sensitive rod and cone cells, which send electrical signals to the brain that allow us to see. Over time, this damage results in progressive vision loss.

What are they doing?

The research team is investigating how ABCA4 functions differently in rods and cones. Using advanced techniques such as high-resolution fluorescence microscopy, electron microscopy, and live single-cell imaging, they will map where ABCA4 is active and how it works at a biochemical level.

They will also assess the vision of people with Stargardt disease to link laboratory findings with real-world visual function, helping to understand how cellular changes translate to vision loss.

How can this help?

A deeper understanding of ABCA4 and its role in Stargardt disease will provide insights into how the condition progresses. This knowledge could guide the development of treatments aimed at slowing or even preventing vision loss in people affected by this inherited retinal disorder.