Mutations In CABP4, The Gene Encoding The Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness

From the Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland (C.Z.; B.K.-G.; U.F.; I.M.; G.M.; W.B.); Molecular Genetics Laboratory (S.K.; B.W.), University Eye Hospital (E.Z.), Tuebingen, Germany; Unit of Oculogenetics, Jules Gonin Eye Hospital (F.-X.B.; F.L.M.), and Ecole Polytechnique Fédérale de Lausanne (D.F.S.), Lausanne, Switzerland; and Institut de Recherche en Ophtalmologie, Sion, Switzerland (D.F.S.)

Abstract:

Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from photoreceptors to adjacent second-order neurons have been shown to cause congenital stationary night blindness (CSNB). Sequence alterations in CACNA1F lead to the incomplete type of CSNB (CSNB2), which can be distinguished by standard electroretinography (ERG)…….more…...

(C) American Journal of Human Genetics.

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