Doctors and scientists have collaborated to introduce Asia's first genetic test that can identify if a person will develop corneal stromal dystrophy. The eye disease is genetic and can lead to blindness if left untreated. The disease is caused by a mutation on the TGFBI gene.
Singapore National Eye Centre (SNEC), Singapore Eye Research Institute, A*Star and Singapore General Hospital have developed Asia's first genetic test to detect the TGFBI gene mutation under the POLARIS programme. Prof Donald Tan, Medical Director of SNEC, said during the press conference that SNEC sees around 350 patients every year who undergo corneal transplants, out of which around 10 patients have corneal stromal dystrophy. Prof Patrick Tan, Program Director of POLARIS, explained that the genetic test is done via a blood test which can determine whether a patient has the TGFBI gene mutation which will develop into corneal stromal dystrophy.
Patient Mrs Tay has the eye disease and received two corneal transplants. Her son was administered with the TFGBI test and discovered that he did not carry the gene mutation and would not develop the disease.
The genetic test is available locally for around $500 as compared to an estimated $744 in the USA. The test only takes a two week turnaround for results, the quickest compared to similar tests around the world. The test only requires two small tubes of blood to determine the results.