This study set out to look at the progression of vision loss in patients with Usher syndrome type 2A caused by a specific mutation (Variant p. Cys870* in exon 13). This particular mutation was chosen to be studied because it is a target for potential drug therapies that could bypass the mutation, allowing a functioning protein to be generated. Results from tests, including visual acuity and visual field testing over a number of years, were studied. This provided researchers with more information about the rate of retinal degeneration in patients with this specific mutation.
What this means for Usher syndrome: This information will help researchers design studies for therapies aimed at bypassing this specific mutation that causes Usher syndrome type 2A. Understanding more about when symptoms begin and the rate at which disease progresses will inform when to give treatment and what tests are able to determine the effectiveness of potential treatments during clinical trials.