A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106.

Bo Chang ¹, Tanja Grau, Susann Dangel, Ron Hurd, Bernhard Jurklies, E Cumhur Sener, Sten Andreasson, Helene Dollfus, Britta Baumann, Sylvia Bolz, Nikolai Artemyev, Susanne Kohl, John Heckenlively, Bernd Wissinger

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Affiliation

1 The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

PMID: 19887631 DOI: 10.1073/pnas.0907720106

Abstract

Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.

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