Brief plain language background
Stargardt disease is an inherited eye condition that causes progressive central sight loss due to damage to the macula – which is a small area in the centre of the retina, the specialised light-sensitive layer that lines the back of the eye.
The retina contains millions of light-sensing cells (photoreceptors), which are vital for healthy eyesight. In patients with Stargardt disease, the photoreceptors stop working or die – leading to sight loss that gets worse over time.
The condition is estimated to affect between one in 8,000 to 10,000 people in the UK, making it the most common form of inherited blindness.
What problem/knowledge gap does it help address
The gene related to Stargardt, ABCA4, is found in photoreceptors in the retina. Although all photoreceptors contain the same faulty gene, some degenerate much faster than others, which in this case is the macula.
Research into any condition relies on a suitable experimental model that offers the best example of the condition in humans.
For Stargardt disease, a mouse model with the faulty ABCA4 gene have been developed, but the mice do not have a region with aggressive degeneration found in the human macula.
A key feature of the central part of the human retina is the lack of blood vessels, giving the name “avascular area”, which is where degeneration in Stargardt disease begins.
Aim of the project
To develop an “avascular area” in the retina of a mouse model for Stargardt disease.
Key procedures/objectives
- Develop a mouse model of Stargardt disease by using mice with the faulty ABCA4 gene and inject a “vector” containing the instructions that prevent the formation of blood vessels in a small region of the mouse retina.
- Examine the degeneration occurring in the retina as the mice age.
Potential impact on people with sight loss
This model has great potential to advance research in Stargardt disease by replicating the key indicator of the condition – a loss of central photoreceptors which in this model is due to a lack of blood supply. Researchers studying the progression of the condition or the development of treatments could utilise the model to test the efficacy of their work.