The genetics of normal and defective color vision
Open accessAbstract
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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Self-citation
Flagged first, then by citations
Research works printed but not linked: 3
- Bollinger, 1999, The importance of deleterious mutations in M pigment genes as a cause of color vision defects, Investigative Ophthalmology & Visual Science, 40, S354
- Carroll, 2000, Estimates of L:M cone ratios from ERG flicker photometry and genetics, Investigative Ophthalmology & Visual Science, 41, S808
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Cited by
Sorted by citations
Fareed, M., Anwar, M. A., & Afzal, M. (2015) · Genes & Diseases · doi:10.1016/j.gendis.2015.02.006 · Cited by 68 · see citing works
Fakorede, S. T., Akpan, L. G., Adekoya, K. O., & Oboh, B. (2022) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-022-00287-9 · Cited by 22 · see citing works
- 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)
- PMC
- PMC3075382
- 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
- bronze
- doi.org
- Licence
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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