New blood test helps detect genetic eye disease


SISTER Teresa Fernandez had two corneal transplants a few years ago after the 76-year-old nun suffered tearing, smarting eyes.

Seven of her nine siblings also suffered the same symptoms due to a genetic disease called corneal stromal dystrophy, which runs in her family.

With the first made-in-Singapore genetic test for the disease now available, however, younger members of a family afflicted with the disease can find out whether they have it and what its progress will be, even if they show no symptoms yet.

The blood test is now being offered to patients at public hospitals, its developers announced yesterday.

The first test costs between S$500 (RM1,280) and S$600 (RM1,530) but subsequent tests for other family members may be cheaper, they added.

The test scans chunks of a gene called TGFBI for sets of harmful mutations that lead to the disease.

For those with a family history of the disease, it can help to predict if they are likely to get it, how fast it will progress and whether they should avoid Lasik vision surgery, which can cause it to flare up. — The Straits Times / Asia News Network

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