About 150 Singaporean Chinese and Indians were involved in a study, where it was found that 25% of Singaporean Chinese carried the CACNA1A gene, where they suffer 40% to 56% higher risk of Exoliation Syndrome, compared to someone without this gene variant. 30% of Indians, on the other hand, were found to carry the gene variant in Singapore.

A quarter of local Chinese carry a gene variant that may lead to Exoliation Syndrome, that may cause Glaucoma. For the past three years, the study was led by the Singapore Eye Research Institute (SERI) and Genome Institute of Singapore (GIS) with a group of international scientists across 17 countries. More than 8,400 patients were studied. Of these, about half of the patients had severe eye disorder, leading to glaucoma.

Researchers in the study found that the gene variant CACNA1A is responsible for exfoliation syndrome. The gene variant causes the drainage system in the eye to block the calcium transport system. Once that cannot be discharged, it will cause pressure in the eye, build-up of fluids, and thus glaucoma. Without early treatment, the patient may go blind.

In 2007, Icelandic researchers found that the LOXL1 in the gene lead to exfoliation syndrome.

GIS Group Leader Dr Khor Chiea Chuen shared at the media conference yesterday that previous studies have shown that the clogged drainage system of the eye is a protein secretion, but this research have shown that, besides protein, calcium may also cause the same eye disorder.

There were about 150 Singaporean Chinese and Indians involved in the research. It was found that 25% of Chinese with the CACNA1A had 40% to 56% higher risk of exfoliation syndrome, than those without the gene variant. On the other hand, 30% of Indians were found to carry the gene variant in Singapore.

According to the study, the global average of exfoliation syndrome with the gene variant is 24.6%, 16% higher than the average person. The exfoliation syndrome is also more prevalent in Europe, India, Japan, and Mediterranean countries. China has less than 1% of the population affected by this. The reason why, is still a mystery.

Dr Khor also emphasised that it does not mean those without this gene variant will not suffer from exfoliation syndrome.

The research team will now focus on how this gene leads to blockage of calcium in the eye, and hopes to find treatment that can prevent this.