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

2009; National Academy of Sciences; Volume: 106; Issue: 46 Linguagem: Inglês

10.1073/pnas.0907720106

1091-6490

Bo Chang, Tanja Grau, Susann Dangel, R.E. Hurd, Bernhard Jurklies, Emin Cumhur Şener, Sten Andréasson, Hélène Dollfus, Britta Baumann, Sylvia Bolz, Nikolai O. Artemyev, Susanne Kohl, John R. Heckenlively, Bernd Wissinger,

Photoreceptor and optogenetics research

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.