At the present time, genetic testing remains controversial and is rarely utilized in ophthalmology.
The general indication for a physician to order genetic testing is that the results of the test be “medically actionable.” This means that the results of the genetic test will affect medical decision-making in a significant enough way to justify the potential emotional, social and financial risks of the test. We have one definite indication, which is testing for RPE65 mutations in children so that Luxturna (voretigene neparvovec-rzyl, Spark Therapeutics) can be injected into the eye