Researchers speed up diagnosis for children with cataracts

Researchers from the University of Manchester believe they have developed a test which will allow for faster diagnoses of children born with cataracts.

The group, from the Centre for Genomic Medicine, worked to develop a single blood sample test which checks all genes known to cause congenital cataracts, the largest cause of blindness in children. They received funding for the research from Fight for Sight.

Genetic mutations are estimated to be the cause of half of the 200,000 cases of congenital cataracts. It is hoped that such research may help increase the accuracy of doctor’s prognoses regarding how the condition may develop in individuals and how successful surgery may be.

Previous tests have required consecutive testing of each different gene. Mutations which have the potential to cause congenital cataracts exist in over 100 genes, meaning that the methods of testing currently in use are both slow and expensive.

With a single screening for one gene taking four weeks, diagnosis using conventional means can sometimes take years.

As well as helping to find which genes cause congenital cataracts, genetic testing can also help to reveal conditions which would otherwise go undiagnosed.

Rachel Gillespie, developer of the test, said that “In some cases, we have identified that the cataracts aren’t just a standalone problem, but a symptom of a more complex syndrome. This includes Warburg micro syndrome and galactokinase deficiency, both rare conditions that are probably under-diagnosed, as warning signs in children can be subtle.”

The tests are currently being validated by the team from the University of Manchester and Central Manchester NHS foundation Trust. They plan to make them available on the NHS this December.