Article
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
Nature genetics - 1 Jul 1998
Kohl S, Marx T, Giddings I, Jägle H, Jacobson S G, Apfelstedt-Sylla E, Zrenner E, Sharpe L T, Wissinger B
Abstract excerpt
Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM) or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder characterized by photophobia, reduced visual acuity, nystagmus and the complete inability to discriminate between colours. Electroretinographic recordings show that in RM, rod photoreceptor function is normal, whereas cone photoreceptor...
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