Scientists have discovered six new forms of inherited blindness, each one resulting from mutations in a different gene important in eye development and vision.
The research, carried out by experts from the University of Leeds School of Medicine over the past three years, focuses on identifying new genes which, when mutated, cause these blinding disorders.
Pinpointing the exact cause gives clinicians the ability to offer their patients more information about how their condition will progress, what risk there is to relatives, and in some cases can point to specific treatment.
A team led by Chris Inglehearn, Manir Ali, and Carmel Toomes studied local families, particularly from the West Yorkshire Pakistani community where such conditions are common, in order 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 due to conditions such as Leber’s congenital amaurosis, cone-rod dystrophy, or global defects of eye development.
“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,” says Inglehearn.
“This greater understanding, together with next generation DNA sequencing technology, is driving a diagnostic revolution in inherited eye diseases.
“As the cost of sequencing comes down, it will soon be feasible to sequence all patients,” Inglehearn adds. “This still doesn’t lead us straight to the mutations that cause the condition, but as we and others identify more of the genes involved, we get progressively better at interpreting their DNA code to work out what the problem is in each patient.”
“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,” Inglehearn says.
“Since new therapies are often specific to particular forms of inherited blindness, it is essential for each patient to know which condition they have, so that when new treatments are tested they can enroll on clinical trials, helping to test the new therapies and potentially benefiting from them themselves.”
A grant from the National Eye Research Centre, together with funding from other sources, supported the research.
Source: University of Leeds