SINGAPORE - A multi-centre study co-led by a group of Singapore researchers has become the first in the world to succeed in identifying the genes behind a condition that can cause blindness.
The finding could pave the way for more targeted treatment for patients with central corneal thickness - a genetic trait associated with a condition where the cornea progressively thins and takes on a more conical shape. It is also known as keratoconus.
Scientists from the Singapore Eye Research Institute (Seri) and the Agency for Science, Technology and Research's Genome Institute of Singapore used data from three existing population-based eye studies. They spent a year differentiating the DNA of almost 8,000 Singaporeans aged 50 and above. This information was combined with similar data involving 55 hospitals and research centres from over 15 countries in Asia, Europe and the United States.
The 20,000-strong sample size enabled the team - led by Seri's executive director, Professor Wong Tien Yin - to identify 26 genes that are associated with corneal thickness. Six genes in particular were found to be significant in keratoconus.
Associate Professor Eranga Vithana, Seri's basic and experimental sciences associate director, said it was the "first study that identifies that many number of genes for keratoconus". "We hope that by finding these genes, we can understand the disease better. And that one day, by finding more genes, we will be able to stratify patients and identify those more at risk of keratoconus."
Seri's deputy director, Professor Aung Tin, added that targeted therapy could also then be developed in the future.
The study was published in the January edition of the prestigious science journal Nature Genetics.
About one in 1,000 people in Singapore are affected by keratoconus. The condition is more common among Asians than Europeans. Among Asians, it is more common in Indians.
The impaired vision can begin in a sufferer from the early teen years. The condition can be managed by wearing spectacles or hard lenses. But many patients will eventually require a corneal transplant by the time they reach their 30s or 40s.
Keratoconus is one of the major reasons for corneal transplants around the world.
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