Understanding vision conditions that cause sight loss is key to propelling further research, including projects that study potential treatments. Here are five projects we’ve funded that have contributed to our understanding of vision conditions.
1. Decoding the genetics of retinal disease
Dr Gavin Arno, UCL Institute of Ophthalmology
There are many types of inherited retinal diseases, but not all genetic causes are known. Thanks to funding from Fight for Sight Dr Arno was able to offer many families a diagnosis, using the data from the 100,000 Genomes Project and the NIHR BioResource Rare Disease Project, which gave his team access to the genetic code of thousands of people with rare conditions. Luckily, these projects coincided with Dr Arno’s research.
“It was a unique position to be in at the time,” he recalls. “Having access to that data meant that we could really explore all these different kinds of mechanisms of disease.”
To find out more about Gavin Arno’s work sign up to our webinar on 17 October.
Sign up to our webinars
to learn about eye research breakthroughs, inspiring real life stories and more...
2. Finding new treatments for aniridia
Professor Jon Collinson
Aniridia is an inherited condition that results in the iris (the coloured part of the eye) not fully developing. One area of the eye that can be affected is the cornea – the clear surface at the front of the eye – which can become cloudy resulting in blurred vision. Current treatments only temporarily reduce the cloudiness of the cornea.
Later in life aniridia can lead to other vision complications, such as cataract or corneal opacification. Professor Collinson’s team have identified two potential treatments which could help to prevent this damage from a young age.
3. Understanding the causes of scarring in age-related macular degeneration
Professor Heping Xu and Professor Mei Chen, Queens University Belfast
Professor Heping Xu and Dr Mei Chen have made important discoveries about the causes of permanent scarring that happens in some people with wet age-related Macular Degeneration (AMD). Wet AMD is the less common but more rapidly progressive type of AMD and can cause rapid changes to vision over days or weeks. Their findings have provided evidence for ideas, which could be further investigated and lead to the development of novel treatments.
"When you tell supporters what progress you’ve made in your research, they are excited, they feel that money they invested perhaps will someday make a difference to patients.”
4. Revealing the genetics of ocular coloboma
Dr Joe Rainger, Roslin Institute at University of Edinburgh
Ocular coloboma is a condition that’s present at birth. The most common sign is a misshapen pupil, caused by having a missing part of the iris. These problems can also extend to the retina and optic nerve, which can cause sight loss.
With funding from Fight for Sight, Dr Rainger identified several genes that were activated during eye development in embryos, indicating a potential cause of ocular coloboma. Dr Rainger continues to study these genes, which may lead to improved testing capabilities, and possibly even new treatments.
5. Giving a voice to young people with sight loss
Professor Jugnoo Rahi
Visual impairment affects the lives of children and young people in ways that aren’t always obvious to parents or healthcare professionals. Measuring the impact of sight loss on children and young people’s lives is important, because it can help us improve it, including the development of new treatments.
Professor Rahi developed questionnaires, crucially with input from children and young people, so that we can better understand their experiences with vision loss conditions.
“What it’s really about for us is that we know that means children’s voices are being captured in a way that they weren’t before.”
Related content
