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

Abstract excerpt

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...

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