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Corneal dystrophy (corneal disease): Symptoms

Corneal dystrophy, a corneal disease, occurs when a gene change causes an abnormal accumulation of protein in one of the different layers of the cornea – the transparent layer in front of the eye. It can appear as white dots, or just blurry vision and as these increase, can lead to gradual loss of vision.

Patients will experience varying degrees of cloudiness of the cornea and blurred vision. The disease can cause pain and discomfort as lumps protrude on the surface of the cornea. In the worst case scenario, a corneal transplant is usually the only recourse to regain vision. However, the disease can recur in the new cornea post-transplant.

Sometimes, cloudiness of the cornea may be due to other, less severe causes such as contact lens wear, viral conjunctivitis, injuries or diminishing cells in the cornea with age.

Corneal disease - Causes​ and treatment

Risks among Asians

Corneal d​ystrophy is common in Asia and a significant contributor to blindness.

Every year, SNEC surgeons do about 80 transplants on people with this disease.

Treatment: Corneal transplant

“They are the ones who have it bad enough to need transplants. But if you look at the real number of patients, it’s about four times that amount, and we’re not even talking about family members. It’s not going to become an epidemic but it is a significant problem in the population,” said Professor Jod Mehta, Head of the Corneal & External Eye Disease Department at Singapore National Eye Centre (SNEC), a member of the SingHealth group.

Those with a mild form may not need a corneal transplant, but severe cases will. Tests help eye surgeons determine what type of transplant to do, and whether the patient will need another operation in the future.

Prof Mehta said, “We do various types of transplants. We can now detect which mutations can occur and know that certain mutations have a higher risk of the disease recurring. We can tailor this to the needs of the patient. If there is a chance of the disease recurring or that the patient may need a second operation, we won’t replace the whole cornea, just a partial one, so it will be easier the second time around.”

Although corneal transplants are the only recourse presently, researchers are actively investigating the disease. “We are also looking at possible new treatments, where in the future, we can develop eye drops or gene therapy to prevent development of the disease,” added Prof Mehta.

​Click on page 1 to learn more about the Singapore-made genetic test that can detect corneal disease early.

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