Concepedia

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

Sophie Valleix, Brigitte Nédelec, Florence Rigaudière, Paul Dighiero, Y Pouliquen, G Renard, Jean-Franc ̧ois Le Gargasson, Marc Delpech

Investigative Ophthalmology & Visual Science · 2005 · 38 citations · 33 references

DOI

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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