Brief plain language background
The retina contains millions of light-sensing cells (photoreceptors), which are vital for healthy eyesight. Photoreceptors can be split into two groups – rods that help us see when it’s dark and cones that enable us to see colour. People generally have three types of cones – red, green and blue – meaning they can see the colour spectrum.
One form of colour blindness, blue-cone monochromatism (BCM), is a rare inherited eye condition caused by faults (mutations) in the genes for red and green cones, whilst the blue cone cells still function. This can result in blurred vision, poor colour vision and sensitivity to light.
What problem/knowledge gap does it help address?
The genetic basis of BCM is not well understood, meaning diagnosis can be difficult, as well as limitations of genetic testing currently available in the UK.
Without a clear understanding of how BCM can affect people and a lack of accurate diagnosis, a clinician may not be able to provide the most optimal management for BCM.
Aim of the project
To study the genetic changes in people with BCM.
This project also aims to further the career progression of the applicant, as amongst other benefits, the findings could form the basis of future grant applications to establish an independent research career.
Key procedures/objectives
- Use novel genetic technology to study the genes affected in people with BCM.
- Work with current BCM patients to collate clinical data, including medical history, vision and eye health assessment and retinal function.
- Combine clinical and genetic information to study how different genetic changes impact how BCM affects the eyes.
Potential impact on people with sight loss
This study acts as a first step towards developing a genetic test for BCM –currently unavailable in the UK – by understanding the genetic makeup of the condition and how this can affect vision.