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

遗传性视网膜疾病是导致失明的主要原因，但遗传基础极其不同。一种这样的疾病，视锥细胞营养不良伴异常视杆ERG，产生于KCNV2的突变，KCNV2编码钾电压门控通道蛋白。该项目的目标是使用疾病的动物模型来确定这种通道蛋白在正常视觉功能中的作用，并评估功能丧失对视网膜发育和功能的影响。

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.