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Which of the following slides contains a pink cell?. Which picture contains a red car?. Which flask contains a light pink solution?. Which picture contains a red crayon?. Blue cone monochromacy. 1:100,000, X-linked recessive Loss or rearrangement of the L/M array - no L/M cones
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Blue cone monochromacy 1:100,000, X-linked recessive Loss or rearrangement of the L/M array - no L/M cones Under normal light levels they are monochromats - even though they have rods...
Achromatopsias: A group of disorders in which color perception is ether entirely absent (complete achromatopsia) or severely defective (incomplete achromatopsia).
Primary symptoms of Rod Monochromats • Poor visual acuity, doesn’t get worse with age • Photophobia (severe light aversion) • Pendular nystagmus (rapid, horizontal oscillations)
Isomerization of chromophore (11-cis to all trans) • Opsin - activates transducin (a G protein) • Transducin - activates PDE • PDE - converts cGMP to GMP • Low cGMP closes ion channels - (Cyclic Nucleotide Gated channels) • Cone hyperpolarizes (inward flux of Ca+2 and Na+ blocked)
Recent molecular work has looked at the function of mutant CNG channels (Peng et al., 2003) Ligand sensitivity and pore properties are altered - don’t close in response to a decrease in cGMP (among other things).
http://www.mcw.edu/cellbio/colorvision/ http://webexhibits.org/causesofcolor/index.html http://www.vischeck.com/ http://webvision.med.utah.edu/