Cited by 377Retinal Development and DisordersVisual perception and processing mechanismsPhotoreceptor and optogenetics research

The genetics of normal and defective color vision

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Neitz, Jay, Neitz, Maureen·2011·Vision Research

Abstract

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.

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Research works printed but not linked: 3

  1. Bollinger, 1999, The importance of deleterious mutations in M pigment genes as a cause of color vision defects, Investigative Ophthalmology & Visual Science, 40, S354
  2. Carroll, 2000, Estimates of L:M cone ratios from ERG flicker photometry and genetics, Investigative Ophthalmology & Visual Science, 41, S808
  3. Mancuso, 2010, Longer-term results of gene therapy for red–green color blindness in monkeys, IOVS, 51

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Authors
Neitz, J., & Neitz, M.
Affiliations
University of Washington (US)
Corresponding author
Neitz, Jay
Venue
Vision Research
Publisher
Elsevier BV
Published
2011-04
Volume
51
Issue
7
Pages
633-651
ISSN
0042-6989 (ISSN-L)
OpenAlex
W2159975746
Cited by
377
References
192
Citations by year
2026: 33 · 2025: 24 · 2024: 36 · 2023: 25 · 2022: 34 · 2021: 28 · 2020: 29 · 2019: 27 · 2018: 21 · 2017: 15 · 2016: 30 · 2015: 23 · 2014: 13 · 2013: 19 · 2012: 16
FWCI
2.15
Type
journal article
Language
en
Open access
Locations
  • Vision Research (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Research to Prevent Blindness
  • University of Washington
  • National Eye Institute (R01EY009303, P30EY001931, R01EY016861, R01EY009620, P30EY001730)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Visual perception and processing mechanisms
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Photoreceptor and optogenetics research
Keywords
color vision deficiency, cone pigments, absorption spectra
MeSH terms
Animals, Color Vision Defects, Color Perception, Humans, Mutation, Retinal Pigments, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells

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