Mutations in the PCDH15 gene are associated with Usher syndrome type 1F (USH1F). In this study, researchers followed individuals with USH1F to document the characteristics of vision loss over time. They also studied this gene using mouse models to better understand the role it plays in eyesight. In normal mice, they observed protocadherin-15 protein in both photoreceptors as well as retinal pigment epithelium (RPE) cells. In USH1F mice, they observed that specific visual retinoid cycle protein levels were reduced, they then decided to test what would happen if these mice were treated with increased levels of this protein that plays a role in the visual cycle. Treatment with the specific visual retinoid cycle protein improved vision in the USH1F mice.
What this means for Usher syndrome: Better understanding of the gene mutations and physical symptoms that manifest allow researchers to propose alternative treatment methods to target specific components of the visual cycle, which may in turn preserve functional vision for longer periods of time.
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