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. Ele...
Topics
- Base Sequence
- Color Vision Defects
- Cyclic GMP
- Cyclic Nucleotide-Gated Cation Channels
- DNA, Complementary
- Female
- Humans
- Ion Channel Gating
- Ion Channels
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Retinal Cone Photoreceptor Cells