Corneal disease can be detected with a Singapore-made blood test even before symptoms appea​r

Up until now, corneal disease, which runs in families and can cause blindness, has been difficult to spot early. Called corneal stromal dystrophy, it is caused by a gene (TGFBI mutation) which affects some family members but not others. Those with the gene may not get the disease for many years. Very young children may not show any symptoms – white spots on the cornea – till their early teens, 20s or 30s.

A Singapore-made genetic test for the disease makes it possible for eye doctors to accurately predict who may get the disease, how fast it will progress and how severe it will be.

Corneal Stromal Dystrophy: ​​​Who should be tested?

Testing is most suitable for those with a family history of the disease, advised the Corneal & External Eye Disease Department from ​Singapore National Eye Centre (SNEC), a member of the SingHealth group.

“Overall, there is a 50-50 chance of children inheriting the gene from their parents. The test allows them to know definitively if they have the gene, and if the disease progression will be mild or severe.” With the test, doctors can tell whether a child with the gene, but who is not showing symptoms, may get the disease later. Previously, these children had to come back for a recheck in five years’ time.

Patients with corneal stromal dystrophy will be advised by their eye doctors and counselled accordingly on the next steps. Those who have a family history of the disease and want to check the likelihood of inheriting it can take the test.

In fact, people with a genetic predisposition to it should discuss the test with their surgeons before any corneal surgery, including LASIK.

​Corneal disease: ​Where to get tested?

This test is available at SNEC. Previously, blood samples had to be sent to the US for testing, with patients bearing the costs of the test and transportation.

A multi-agency project, the test was first conducted by the Genome Institute of Singapore, based on research by SNEC and the Singapore Eye Research Institute (SERI).

The clinical test was developed by the Singapore General Hospital (SGH) and validated by the Molecular Diagnosis Centre at the National University Hospital.

Click on page 2 to le​arn about the symptoms, risks and treatment​ of corneal disease.  

Ref: L20