Child cataract blood test developed
A blood test that may improve treatment for children born with congenital cataracts has been developed by researchers in Manchester.
It analyses every known mutation in the DNA which can cause the condition.
The team, which is presenting the test at the British Society for Genetic Medicine, hope it will spread up diagnosis and help decide the best treatment.
The charity RNIB described the test as a “welcome step forward”.
About 200 children are born with cataracts in the UK each year.
“Diagnosing a congenital cataract is very easy at birth, but diagnosing the cause takes considerably longer,” Prof Graeme Black, from the University of Manchester, said.
The problem is there are more than 100 different mutations in a child’s DNA which have been linked to congenital cataracts.
“If you have a child with no family history then finding the cause can take months or years,” he told the BBC.
‘Faster treatment’
A complete diagnosis can help doctors work out the best course of treatment, inform families on the risks of cataracts if they have more children or diagnose severe diseases which have cataracts as an early symptom.
At the moment, each mutation has to be tested for individually.
A team of researchers, at Manchester University and the Central Manchester Health Care Trust, has used advances in genetics to look for all the errors in the genetic code in a single test.
Dr Rachel Gillespie said: “Our test looks at all of these genes in parallel, so patients can be diagnosed much faster and receive the treatment, clinical management and genetic counselling they need.”
Hospitals in Manchester will begin offering the test from December.
Steve Winyard, from the charity RNIB, said: “This is very interesting research as approximately 200 children in the UK are born with some form of congenital cataract every year.
“Any development which enables children to be diagnosed quicker and gain faster access to treatment is a welcome step forward.
“It will be exciting to watch how this research progresses and how the genetic information might be used to manage congenital cataracts in the future.”
Source: BBC News