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S'pore team develops test for eye disease that can lead to blindness

The genetic test identifies patients with corneal stromal dystrophy, which affects the cornea and can lead to loss of vision.

SINGAPORE: Eye doctors and scientists from Singapore have developed Asia's first genetic test for identifying patients with a type of eye disease known as corneal stromal dystrophy, which affects the cornea and can lead to loss of vision.

The POLARIS Transforming Growth Factor beta Induced (TGFBI) genetic test is designed to aid in the diagnosis and management of patients with corneal stromal dystrophies. The test provides such patients with a personalised diagnosis of their condition, which will help facilitate clinical care.

It can also identify family members carrying a TGFBI mutation who may also be at risk of developing the same condition in later life.

"We are often asked about whether this gene can be transferred across the family, inherited from parents to children. We're often asked whether there's a risk that their children, brother or sister will get the disease," said Prof Donald Tan, Medical Director, Singapore National Eye Centre. 

"Overall, there's about a 50-50 chance. Now we can offer this genetic test to family members who have this disease so they will know definitively whether they have this gene or not which will then affect them in later life."

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