Tackling the causes of inherited blindness that affect adults and children

09 November 16

written by:

Ade Deane-Pratt

(more articles)

Fight for Sight and National Eye Research Centre partner to co-fund two new studies

Inherited retinal dystrophies are the main cause of blindness in adults aged 16-64 in England and Wales. We've joined forces with National Eye Research Centre to co-fund two new studies, with the aim of developing treatments that halt sight loss in these devastating conditions.

Choroideremia is a rare inherited disorder that affects males and begins in early childhood with night blindness. By around the age of 50, all sight is gone.

The genetic fault that causes choroideremia affects a protein called rab escort protein 1 (REP1). It is important for correctly processing proteins within all cells of the body and particularly in the retina – the light-sensing layer at the back of the eye. 

Tommy's grandmother Dot, Tommy, and his mother, Emma Salisbury.
The Salisbury family.

The Tommy Salisbury Choroideremia Fund at Fight for Sight was key to the world’s first gene therapy clinical trial for sight loss, enabling research to understand what REP1 does.

Choroideremia beyond the eye?

Dr Mariya Moosajee and team at the UCL Institute of Ophthalmology will address the recent question of whether choroideremia’s effects extend beyond the eye. Results from the study could point to new ways to monitor and treat the condition.

“Our aim is to understand more about the biochemical changes caused by defective REP1 that leads to sight loss in choroideremia,” said Dr Moosajee. “This protein may also cause disturbances in metabolism throughout the whole body, which may reveal factors that affect the progression of sight loss and indicate prognosis. We may also identify biomarkers for use in future clinical trials and highlight new therapeutic targets to prevent sight loss.”

Cell recycling

Meanwhile, Mr Martin McKibbin at St James’s University Hospital, Leeds will investigate autophagy – the process of cell recycling. Autophagy is vital for cell survival throughout the body and especially so in the retina. Photoreceptor cells suffer daily damage in the process of detecting light and need constant renewal.

“Recent evidence has shown that faults in at least two genes, DRAM2 and MFSD8, are responsible for rare inherited, eye conditions with symptoms that begin early in adult life and progress to legal blindness,” said Mr McKibbin. “Both genes are important for autophagy – one initiates the process and the other is involved later but both lead to the build-up of deposits that are seen in many retinal disorders.

"In this project, we will use skin cells to help develop a way of studying the effect of specific drugs on autophagy. Ultimately we want to develop treatments for these and other conditions, such as age-related macular degeneration, in which autophagy may play an important role.”

Inherited retinal dystrophy associated with DRAM2 was discovered via the Fight for Sight co-funded RP Genome Project.

A life-changing difference

“Together, the inherited retinal dystrophies account for 1 in 5 blindness certifications in England and Wales amongst adults of working age; more than any other cause,” said Dr Dolores Conroy, Director of Research at Fight for Sight.

“Our partnership with National Eye Research Centre provides the vital seed funding needed to pursue promising new lines of research. The potential effects downstream could make a life-changing difference to patients and reduce the huge economic cost of sight loss.”

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