Corneal disease covers a wide variety of eye conditions that affect the cornea, the clear protective outer layer of the eye.

Corneal disease can be detected with a new blood test before symptoms appear. A similar test can also predict disease progression.

Up until now, corneal disease, which runs in families and can cause blindness, has been difficult to spot early and predict progression. Called corneal dystrophies, it is caused by a gene change which affects some family members but not others. Those with the gene may not get the disease for many years. Young adults may not show any symptoms till 30s or 40s.

This first made-in-Singapore 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.

It is most suitable for those with a family history of the disease, said Professor Jod Mehta, Senior Consultant at 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.” Now, doctors can tell if a young adult with the gene, but who is not showing symptoms, may get the disease later. Previously, they had to ask these adults to come back for a recheck in five years’ time.

Patients with corneal 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.

This test is now 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. The study was first published in the British Journal of Ophthalmology in 2011.

Ref: H24

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