The genetics of normal and defective color vision

Vision Res. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010.12.002. Epub 2010 Dec 15.


The contributions of genetics research to the science of normal and defective color vision over the previous few decades are reviewed emphasizing the developments in the 25years since the last anniversary issue of Vision Research. Understanding of the biology underlying color vision has been vaulted forward through the application of the tools of molecular genetics. For all their complexity, the biological processes responsible for color vision are more accessible than for many other neural systems. This is partly because of the wealth of genetic variations that affect color perception, both within and across species, and because components of the color vision system lend themselves to genetic manipulation. Mutations and rearrangements in the genes encoding the long, middle, and short wavelength sensitive cone pigments are responsible for color vision deficiencies and mutations have been identified that affect the number of cone types, the absorption spectra of the pigments, the functionality and viability of the cones, and the topography of the cone mosaic. The addition of an opsin gene, as occurred in the evolution of primate color vision, and has been done in experimental animals can produce expanded color vision capacities and this has provided insight into the underlying neural circuitry.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Color Perception / genetics*
  • Color Vision Defects / genetics*
  • Humans
  • Mutation*
  • Retinal Cone Photoreceptor Cells
  • Retinal Pigments / chemistry
  • Retinal Pigments / genetics*
  • Retinal Rod Photoreceptor Cells


  • Retinal Pigments