| Popis: |
Primary open angle glaucoma (POAG) is of great diagnostic concern because it is so common and because often the disease is asymptomatic, even in the presence of irreversible ocular damage. Though assessing known risk factors - including age, race, ocular signs, family and medical history - can aid in calculating a patient’s risk for developing glaucoma, there has been no screening/testing available to accurately predict who will develop glaucoma. The advent of DNA diagnostics offers the potential to accurately test for the presence of mutations that lead to the development of glaucoma. As is the case with any diagnostic test, a specificity and sensitivity of less than 100% means that both false negatives and false positives will occur. In addition, there are potential pitfalls specific to testing for disease-causing genes. In this paper, we discuss testing for the first cloned POAG gene, TIGR/MYOC (trabecular meshwork inducible glucocorticoid response/myocilin) [1, 2], and pitfalls in interpretation of the test results. |
