September 2023

Two out of five of all people with EB responding to our recent Insight Study told us that it affects their eyes. Just under a quarter of people with EB simplex have eye symptoms such as dry eyes and blistering while the majority of people with the rarer EB types (dystrophic, junctional and kindler) report that their eyes are affected, and that any loss of sight has a huge effect on their daily life.

In National Eye Health Week, we’d like to highlight the research projects we fund that aim to provide relief from eye symptoms of EB.

 

Eye drops for EB patients

Prof Liam Grover at the University of Birmingham, is working with other specialists, including Prof Tony Metcalfe and Dr Tom Robinson, to develop an eye drop for EB patients. A new formulation that stays on the eye longer before it is blinked away would mean it needs to be used less often per day. Fewer applications mean that, in the future, expensive anti-scarring substances could be added to the eye drop so it doesn’t just lubricate, but actively treats EB.

 

Anti-scarring substances on the eye

Prof Keith Martin and Dr Gink Yang work at the Centre for Eye Research Australia (CERA) and the University of Melbourne, studying the effects of specific anti-scarring substances on the eye. To do this, they must first grow human eye cells from donated corneas in the laboratory. They then make the cells behave like those from people with EB by reducing the amount of collagen (to mimic dystrophic EB) or laminin (to mimic junctional EB) that they produce. Without these proteins, cells behave differently in terms of how well they stick to each other and the substances they produce that lead to scar tissue formation. These differences at the level of the cells are what lead to symptoms of EB such as dry eyes, blistering and sight loss. If adding something to these cells in the laboratory can make them behave as if they aren’t missing those key EB proteins, that substance could be a future treatment for EB. It could be progressed to further trials and ultimately end up in an eye drop formulation.

 

We currently partner with the eye charity Fight for Sight to offer an annual opportunity for doctors or scientists to apply for small grant funding to research eye symptoms of EB and agree with our member who told us “there is no substitute for loss of sight”.

Image credit: Photo by Angela Roma