Novel therapies for Bestrophinopathies

Bestrophinopathies are a group of clinically distinct diseases caused by mutations in Bestrophin1 (BEST1). BEST1 is expressed exclusively in the retinal pigment epithelial (RPE) cells of the eye, where it functions as an ion channel. Mutations in the BEST1 gene affect the function of the RPE leading to the death of overlying retinal cells and subsequent vision loss. The dominant and recessive nature of Bestrophinopathies may necessitate different approaches to prevent or ameliorate these diseases. Potential therapeutic options for Bestrophinopathies focus on restoring correct gene expression, though viral gene therapy and gene editing, or by targeting nonsense mutations through translational readthrough‐inducing drugs. We are using induced pluripotent stem‐derived RPE created from patients with Bestrophinopathies to investigate these potential therapies in vitro .