Back a breakthrough in inherited eye diseases

Thousands of children continue to be affected by sight loss or blindness from inherited eye diseases that result from faulty genes. We know science holds the solution to transform the lives of children, adults and their families. We currently invest in over 35 projects to find answers to these conditions. We are focused on understanding the underlying genetics and improving diagnosis and treatments.

Some of our research into inherited eye diseases

 

World first gene therapy that is already restoring sight

Fight for Sight funded vital early stage research at Imperial College which has led to the development of a new gene therapy treatment for choroideremia. The treatment is being developed at Oxford University and is already halting the disease and even restoring sight for some patients at clinical trial.  If approved, the treatment currently in phase III of clinical trials will be the world’s first gene therapy for this condition.

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Genetic technique helps patient see light for the first time in decades

A professor at the UCL Institute of Ophthalmology has pioneered a new genetic technique that successfully restored the sight of ten patients with the most common form of childhood-inherited blindness in a clinical trial. 

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Using stem cells to develop new treatments for childhood eye cancer

University of Newcastle researcher, Professor Majlinda Lako and her team are creating a laboratory model of retinoblastoma using stem cell technology to expand our understanding about the genetic changes which occur leading to tumours forming, spreading and also to identify the retinal cells involved.

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Joe Pepper recovered some of his sight after taking part in the choroideremia clinical 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 about choroideremia Return to main research page

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