Eyeworld

MAY 2015

EyeWorld is the official news magazine of the American Society of Cataract & Refractive Surgery.

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65 EW INTERNATIONAL May 2015 that will not only dissolve the aggre- gates in the cornea, but also prevent protein aggregation. This medication is mutation specific, working better on some mutations than others. Knowing the mutation through the POLARIS TGFBI program will allow clinicians to assess the effectiveness of the eye drop in vitro before it can be used in vivo. "I hope with further develop- ment of our topical eye drop thera- py, we can avoid transplants alto- gether in this group of patients and provide them with the appropriate topical therapy depending on their mutation," Dr. Mehta said. EW Editors' note: Dr. Mehta is the clinican scientist who helped develop the POLARIS TGFBI test. He has no financial interests related to the test. Contact information Mehta: jodhbir.s.mehta@snec.com.sg which is of particular importance for people considering careers where excellent visual acuity is essential (i.e., airline pilots). Relatives of patients with corne- al stromal dystrophies can now find out whether they have the condi- tion, as well as those patients who have atypical stromal pathology of unknown etiology. How the test works The POLARIS TGFBI test is offered by clinicians to suitable patients being seen at the Singapore National Eye Centre (SNEC). Blood samples from SNEC clin- ics are sent for DNA screening. "Once the blood sample arrives in the laboratory, DNA screening is done of the 5 exons of the gene in which 99.8% of reported mutations occur," Dr. Mehta said. The test is specific to TGFBI-related corneal stromal dystrophy. After this, a report is then generated explaining the location of the mutation, as well as its clinical implications. "The clinical information has been collated by our team at the Singapore Eye Research Institute from published literature on re- ported mutations and their clinical outcomes," Dr. Mehta said. Currently, patients have to pay out of pocket for POLARIS TGFBI. "The test is not yet subsidized by the government's medical program, but we hope to do this in the future," Dr. Mehta said. For the time being, patients from other Asian countries can come to Singapore to get this test— at least until after Asia Genomics has made the test available around Asia-Pacific Commenting on how patients and their families are responding to the POLARIS TGFBI test, Dr. Mehta said: "Patients are more well-in- formed now than in the past, which is a good thing. The test provides security for relatives of patients. It provides reassurance to the indi- vidual who has the condition. The response has been variable; some people have been more open to this than others, people who are more informed about their condition want to know more." The idea is to provide a more personalized medical treatment program from the extra informa- tion obtained from genetic testing. With genetic testing comes genetic counseling. "We have a genetic counselor who is working with us in the clinic that patients also see before they undergo the test," Dr. Mehta said. "Personalized care will be the future for medicine as opposed to one treatment for everyone." Beyond the POLARIS TGFBI test, the team in Singapore is currently working on a topical medication

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