New studies aim to halt sight loss of inherited vision impairment

Post date: 
Tuesday, 22 November 2016
Close up of light shining in eye

Two of the UK’s leading eye research charities have partnered to fund new studies into rare conditions that affect males in early childhood.

Hereditary retinal dystrophies are the main cause of vision impairment in adults aged 16-64 in England and Wales. Fight for Sight and National Eye Research Centre have joined forces to co-fund two new studies in Leeds and London. The aim is to develop treatments that halt sight loss in these 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 lost. The genetic fault that causes choroideremia affects a protein called rab escort protein 1 (REP1).
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.”

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.
“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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