Research into inherited eye diseases

There are a large number of genetic disorders that cause damage to different structures of the eye - like the retina, lens and cornea - resulting in sight loss. Although rare, these conditions are most likely to affect children and then to continue into adulthood. 

We currently invest in over 35 projects to find solutions to these conditions. We are focused on understanding the underlying genetics and improving diagnosis and treatments.

For example, we funded initial research into a condition called choroideremia that resulted in clinical trials at Oxford University led by Professor Robert MacLaren. The pioneering gene therapy trial uses a virus to insert the correct genetic information into the eye which leads to the right proteins being produced. The approach has been successful at clinical trial and has restored sight for patients like Joe (see below). 

Read more about our inherited eye diseases research

Joe Pepper recovered some of his sight after taking part in the trial. He said:

“To grow up gradually seeing your vision deteriorate and having to contemplate giving up the sports and activities you love was soul destroying. Thanks to the research funding of Fight for Sight I no longer have to prepare for going blind. I encourage everyone to treasure the sights you see. I certainly do and now always will be able to.”

Choroideremia

What is it?

Choroideremia is a rare inherited cause of severe sight loss in men. Symptoms start in childhood with trouble seeing at night and eventually lead to complete blindness by around the age of 40.

Find out more about choroideremia

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