Uncovering genetic links causing rare eye conditions

25 February 22

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Research that has uncovered links between seven genes and inherited retinal disease, including Retinitis Pigmentosa (RP), could have a lasting impact on research in the UK and beyond.

Funded by Retina UK (formerly RP Fighting Blindness) and Fight for Sight, the study has not only identified disease-causing genes but has also helped improve diagnosis and created a new comprehensive database with over 500 participants.

The research team – otherwise called the UK Inherited Retinal Dystrophy Consortium – are progressing the study with new funding from Retina UK which started in December 2020.

With one in four RP patients not receiving a specific diagnosis on what caused the condition, this project will lead to more clarity for affected patients and is an important first step to developing treatment. 

1 in 4000 people

RP is the most common form of inherited retinal dystrophy. It affects 1 in 4000 people.

In RP, light-detecting photoreceptor cells in the retina at the back of the eye stop working over time. Eventually, they die.

This starts with the photoreceptors that are active in low light – the ‘rods’ – and may later progress to the ‘cones’ used for seeing colour and detail. This means that the condition often starts manifesting through ‘night blindness’ which can affect a person’s ability to see in dim light.

In this study, which came to an end in August 2021, the research team used whole genome sequencing to search for the underlying genetic cause of RP in affected patients. As a result, they discovered seven genes newly implicated in inherited retinal disease and gained further understanding of the role of nine other genes in human disease. This collaboration has laid a strong foundation for future work to continue to provide information regarding the causes of rare undiagnosed inherited conditions. 

Kickstarting vital research

Keith Valentine, Chief Executive at Fight for Sight, said:

“We are proud to have funded such vital early-stage research into RP. Investing in early-stage research like this is so important in propelling ideas forward, unlocking further funding and encouraging collaboration across the eye research sector. We know there is currently no cure or effective treatments that can stop the progression of RP. A diagnosis of RP is devastating enough. Now, with more clarity behind the genetic information behind it, we can give patients more personalised and clearer advice, with the hope of one day finding a treatment that works for each person, in the UK and beyond.”