Scientists have claimed that some forms of congenital blindness could be cured through gene therapy after they discovered a gene missing in infants born with the blinding disease Leber congenital amaurosis.
According to the research team at the University of California (UCLA), the gene, RPE65, is also a key enzyme in the visual cycle, and one that has long been a mystery to those involved in eye research.
Leber congenital amaurosis is an inherited disease believed to cause up to 20 per cent of all cases of childhood blindness, as a result of mutations in several different genes including RPE65.
Dr Gabriel Travis, professor of ophthalmology and biological chemistry at Jules Stein Eye Institute, said the discovery was 'a major breakthrough in understanding the visual cycle'.
He said: '[Our research] suggests that replacement of RPE65 by gene therapy should correct the blindness in these children, as was observed in mice and dogs with RPE65 mutations.'
The study was published in the August 12 edition of Cell magazine.
'We were amazed when we discovered the function for RPE65 - and that RPE65 is the retinoid isomerase,' said Dr Travis. 'It is a protein we had known about for years,' he said. 'It's like searching the world for a treasure, then discovering it in your own back yard.'