First homegrown genetic test for eye disease now offered at public hospitals

SINGAPORE - The first made-in-Singapore genetic test for an eye disease that affects the cornea is now being offered to patients at public hospitals.

The blood test, which will cost up to $600, scans chunks of a gene called TGFBI for sets of harmful mutations that lead to corneal stromal dystrophy. In those with a family history of the disease, the test can help predict who is likely to get it, how fast it will progress and if they should avoid Lasik vision surgery, which can cause it to flare up.

In corneal stromal dystrophy, proteins clump in the cornea, the clear layer of tissue at the front of the eye. That clouds the cornea and affects vision. In some cases, patients need corneal transplants.

The test was developed as part of the Polaris programme, a national scheme to turn biomedical research findings into treatments for Singapore patients.

Professor Donald Tan, medical director at the Singapore National Eye Centre, which helped develop the test, said the centre operates on 10 to 11 corneal stromal dystrophy patients here each year, and has some 200 patients registered in its database.

Polaris programme director, Professor Patrick Tan, said the condition was picked because of the wealth of existing research and expertise on it here. For instance, researchers here have studied the characteristics of the disease and the prevalence of various mutations around the world.

Each person has two copies of the TGFBI gene; if either one carries the harmful mutations, that person will have the disease. The genetic disease runs in families and typically shows up in one's late teens, twenties or thirties.