Researchers at Newcastle University are looking into creating treatments for common inherited eye conditions. They use stem cells from the skin of patients with retinitis pigmentosa (RP) to identify how mutations can affect cells and to recreate defects that lead to patients developing RP. Specifically, they are studying mutations in the PRPF31 gene. Lead researcher, Majlinda Lako, hopes the research can lead to a cure for RP by identifying the cause and then stopping it.
What this means for Usher syndrome: Vision loss in Usher syndrome is caused by retinitis pigmentosa (RP). This study is trying to understand how mutations can affect cell function and ultimately cause RP. This will provide the initial steps needed to develop new therapies that might be also applicable to Usher patients.