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New forms of blindness discovered

New forms of blindness discovered

Six new forms of inherited blindness have been discovered by researchers at the University of Leeds. Each of the conditions results from a mutation in genes which are known to be associated with eye development and vision.

As part of a three-year study, with results published in multiple papers, researchers from the University’s School of Medicine studied local families in West Yorkshire, mainly of Pakistani ethnicity where the inherited blinding conditions are prevalent.
The team sequenced the genomes of individuals whose families had multiple members with conditions such as Leber’s congenital amaurosis and cone-rod dystrophy, in order to identify the genes involved. They were able to then pinpoint genetic mutations associated with the conditions.
Professor Chris Inglehearn, who led the research, said: “Finding these genes is important in many ways. As well as directly benefitting families it allows researchers to build a more comprehensive list of the genes needed for the eye to develop and function properly.”
Mike Daw, chief executive of the National Eye Research Centre, which funded the work, said: “This is exactly the type of research that my charity is proud to support and demonstrates how advances in DNA sequencing might lead to individually targeted treatments which have the potential to improve the vision and outcomes for hundreds, and perhaps thousands, of people.”
Commenting on the research, Clara Eaglen, RNIB eye health campaigns manager, said: “This discovery could have huge implications for thousands of people with inherited blindness. The greater our understanding of the genetic causes of blindness the greater our chance of developing targeted treatments that could improve vision.”

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