Funding outcome

KCNV2 Retinopathy is an eye disease caused by defective photoreceptors, which are light-detecting retinal cells. Patients with this disease possess poor central vision, aversion to bright light and night blindness. Research has shown that mutations in a single gene, KCNV2, underlie the disease. KCNV2 codes for a potassium channel protein subunit, called Kv8.2, that resides on photoreceptor membranes. This protein contributes to sensing light responses and converting light into signals that can be sent to the brain. Mutations in the KCNV2 gene create dysfunctional Kv8.2 protein subunits, leading to abnormal photoreceptor responses to light and photoreceptor death. Currently, the mechanisms involved in photoreceptor death are not understood. The Hocking lab created a zebrafish model of KCNV2 Retinopathy to learn more about the disease. Zebrafish eyes are very similar to human eyes. So far, research has shown that juvenile mutant zebrafish possess enlarged yet functioning photoreceptors, with evidence of degeneration in 5-month-old fish. The functioning photoreceptors in young fish provide the potential for intervention at this stage. In this project, I will compare photoreceptors between larval and adult fish in the zebrafish KCNV2 Retinopathy model. I will assess the morphology and function of newly formed and aged photoreceptors using electroretinography and microscopy. I predict that photoreceptors will develop normally, but their abnormal physiology will over time lead to disrupted morphology that eventually results in cell death. This work will provide insight into the pathology of the disease.