There is no substitute for loss of sight
Butterfly skin isn’t the only symptom of epidermolysis bullosa (EB). Our recent Insight Study survey gathered information on symptoms from over 300 people living with all genetic types of EB and their carers. Two out of five of them told us that it affects their eyes.
- 34% dry eyes
- 22% blistering / irritation around the eyes
- 7% temporary partial sight / blindness
- 2% permanent partial sight / blindness
Just under a quarter of people with EB simplex have eye symptoms such as dry eyes and blistering while the majority of people living with the rarer EB types (dystrophic, junctional and kindler) report that their eyes are affected. Any loss of sight has a huge effect on daily life and nearly 1 in 10 of our respondents reported temporary or permanent partial sight loss or blindness.
“I have EB simplex and have recently been diagnosed as having Blepharitis, which although isn’t painful, is uncomfortable despite my daily routine of applying a heat pad to my eyes, using drops and a special cleaning fluid”
– DEBRA UK member
With this in mind, we’d like to highlight the projects we fund that aim to provide relief from eye symptoms of EB.
We have funded Prof Liam Grover at the University of Birmingham, along with other specialists, including Prof Tony Metcalfe and Dr Tom Robinson, to [develop an eye drop for people living with EB. 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.
We have funded a PhD student in the laboratory of Prof Keith Martin and Dr Gink Yang 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 DEB) or laminin (to mimic JEB) 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.
As well as funding research on eye symptoms we aim to raise awareness of EB where it will most help our members to access support. As EB is a rare condition, many specialists outside the field of dermatology may not be aware of it. We have shared information about EB and the support offered by DEBRA with the Eye Care Liaison Officers of the Royal National Institute of Blind People (RNIB).
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.
We agree with our member who told us that “there is no substitute for loss of sight”.
Image credit: Photo by Angela Roma