scientists IN Yorkshire have discovered six new forms of inherited blindness linked to mutations in genes which play a key part in eye development and vision.
Experts from Leeds University say by pinpointing the exact cause, patients gain information about how their condition will progress, what risk there is to relatives, and in some cases can be directed to specific treatments.
The team, funded by the National Eye Research Centre, studied families, mainly from West Yorkshire’s Pakistani community where conditions are common, to track down the genes involved.
Using DNA technology, they sequenced every gene in patients from families in which multiple members were blind from birth.
Prof Chris Inglehearn, who co-led the team, said: “Finding these genes is important in many ways. As well as directly benefiting families, it allows researchers to build a more comprehensive list of the genes needed for the eye to develop and function properly. As well as improving diagnostics, the greater understanding of the biology of vision gained from such studies also informs the search for new forms of therapy.”
The research centre charity is now fund-raising to support the Leeds team on the next steps to screen patients on a larger scale, develop and test new methods to reduce costs and bring closer a time when tests are available to all patients and their families on the NHS.