H244R VSX1 Is Associated with Selective Cone ON Bipolar Cell Dysfunction and Macular Degeneration in a PPCD Family

Abstract

The human VSX1 is required for cone ON bipolar cell function but not for rod and cone OFF bipolar cells, giving a unique example of such a selective heritable retinal defect in humans. Furthermore, the authors provide the first clinical support for a new alternative role of VSX1 in cone biology, probably similar to that proposed for its goldfish ortholog during retinal differentiation.

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