A study of the role of voltage-gated potassium channels in the process of phototransduction, in the setting of photoreceptor sensitivity levels and response times, and in the progression of a distinctive form of inherited retinal dystrophy

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Inherited retinal disease is a major cause of blindness but the genetic basis is extremely heterogeneous. One such disorder, cone dystrophy with supernormal rod ERG, arises from mutations in KCNV2 that encodes a potassium voltage-gated channel protein. The objective of the project is to use animal models of the disease to determine the role of this channel protein in normal visual function and to assess the impact of loss of function on retinal development and function.