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achromatopsia

Monday 17 November 2003

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination.

Pathology

3 genes involved

- protein-truncation mutations in the GNAT2 gene (1p13).

GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s) (12077706)