Colour Vision Defects

Abstract

Normal colour vision refers to the form of trichromatic colour vision shared by most individuals. It is mediated by three types of retinal cone photoreceptors, short‐ (S), medium‐ (M) and long‐ (L) wavelength‐sensitive. Colour vision defects can either be inherited as the consequence of genetic defects that affect the function of one or more cone type, or they can be acquired through exposure to neurotoxins or as secondary effects of systemic or ocular diseases. Among individuals with colour vision deficiency, there is tremendous variation in the capacity for colour vision, ranging from no colour vision to nearly normal. Viral‐mediated gene therapy for ocular diseases has been an area of intense investigation over the last decade. Because genetic mutations underlying colour vision deficiencies have been identified, gene therapy may be a viable option for curing various forms of colour blindness in the future.

Key Concepts:

  • Normal colour vision requires three classes of cone photoreceptor in the retina: short‐, medium‐ and long‐wavelength sensitive.

  • The hallmark feature of colour vision defects is a reduction in the number of different colours that can be distinguished from each other.

  • Colour vision defects can either be inherited or they can be acquired secondary to disease or through exposure to certain drugs or neurotoxins.

  • Mutations and rearrangements in the genes encoding the short‐, medium‐ and long‐wavelength sensitive photopigments are responsible for inherited colour vision deficiencies.

  • Gene therapy has been successfully used to treat colour blindness in animal models and these experiments pave the way towards cures for colour blindness in humans.

Keywords: colour vision deficiency; cone photoreceptors; red–green colour vision; congenital colour vision defects; cone photopigment; gene therapy

Figure 1.

Tuning of cone photopigment absorption spectra. (a) Absorption curves for S (blue curve), M‐class (family of green curves) and L‐class (family of red curves) pigments. Wavelength of peak absorption is 415 nm for the S pigment, near 530 nm for M‐class pigments and near 560 nm for L‐class pigments. The rectangular bar below the x axis indicates the colour appearance of different wavelengths to a person with normal colour vision. (b) Two‐dimensional representation of L and M opsins. Balls represent amino acids. Grey balls are invariant amino acid positions among normal L and M opsins. The black ball is the residue to which the chromophore is attached. Red balls are the two amino acid positions that produce the spectral difference between M‐ and L‐class pigments. Yellow balls are positions that produce small spectral shifts and produce subtypes of M and L pigment. Blue balls are variant positions with no influence on the spectrum.

Figure 2.

Comparison of dichromatic and normal colour vision. (a) The colours of the visible spectrum as they appear to a person with normal colour vision (left) were digitally altered (right) to illustrate the appearance of the same spectrum to a red–green colour blind dichromat. (b) Photograph of red and green peppers (left) digitally altered to illustrate the appearance of the same peppers to a red–green colour blind dichromat (right). There are two properties of colour: hue and brightness. A person with normal colour vision can detect the difference in hue between bell peppers that do not differ significantly in brightness. A dichromat cannot detect the difference in hue, and the peppers appear to be all the same colour.

Figure 3.

Recombination between X‐chromosome pigment gene arrays required to produce arrays observed in the present‐day population underlying normal, protan and deutan colour vision. (a) Intergenic recombination between ancestral two‐gene arrays that confer normal colour vision gives rise to one new array that confers normal colour vision and another that confers dichromacy (deuteranopia). (b) Intragenic recombination between two two‐gene arrays that confer normal colour vision produces two new arrays that both confer colour blindness. (c) Intragenic crossover needed to produce protanomalous arrays. The parental three‐gene array must be produced by crossover between two ancestral two‐gene arrays, and this added step probably accounts for the lower frequency of protanomaly in the population. (d) To delete the M gene from a deutan array requires a crossover between a deutan array with an M gene and another array.

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References

Asenjo AB, Rim J and Oprian DD (1994) Molecular determinants of human red/green colour discrimination. Neuron 12: 1131–1138.

Baraas RC, Carroll J, Gunther KL et al. (2007) Adaptive optics retinal imaging reveals S‐cone dystrophy in tritan color vision deficiency. Journal of the Optical Society of America A 24: 1438–1447.

Barbur JL, Rodriguez‐Carmona M, Harlow JA et al. (2008) A study of unusual Rayleigh matches in deutan deficiency. Visual Neuroscience 25: 507–516.

Gunther KL, Neitz J and Neitz M (2003) A novel missense mutation in the S cone photopigment in a male who made tritan errors on the Netiz test of color vision. Investigative Ophthalmology & Visual Science (suppl.) 44: B803.

Gunther KL, Neitz J and Neitz M (2006) A novel mutation in the short‐wavelength sensitive cone pigment gene associated with a tritan color vision defect. Visual Neuroscience 23: 403–409.

Kohl S, Jägle H, Sharpe LT and Wissinger B (2010) Achromatopsia. In: Pagon RA, Bird TD, Dolan CR and Stephens K (eds) Gene Reviews [Internet]. 1993–2004, 24 June [updated 23 December 2010]. Seattle, WA: University of Washington.

Komáromy AM, Alexander JJ, Rowlan JS et al. (2010) Gene therapy rescues cone function in congenital achromatopsia. Human Molecular Genetics 19: 2581–2593.

Mancuso K, Hauswirth WW, Li Q et al. (2009) Gene therapy for red–green colour blindness in adult primates. Nature 461: 784–787.

Nathans J, Davenport CM, Maumenee IH et al. (1989) Molecular genetics of blue cone monochromacy. Science 245: 831–838.

Nathans J, Maumenee IA, Zrenner E et al. (1993) Genetic heterogeneity among blue‐cone monochromats. American Journal of Human Genetics 53: 987–1000.

Nathans J, Merbs SL, Sung C, Weitz CJ and Wang Y (1992) Molecular genetics of human visual pigments. Annual Review of Genetics 26: 403–424.

Nathans J, Piantanida TP, Eddy RL, Shows TB and Hogness DS (1986a) Molecular genetics of inherited variation in human colour vision. Science 232: 203–210.

Nathans J, Thomas D and Hogness DS (1986b) Molecular genetics of human colour vision: the genes encoding blue, green and red pigments. Science 232: 193–202.

Neitz J and Neitz M (2011) The genetics of normal and defective color vision. Vision Research 51: 633–651.

Neitz J, Neitz M and Kainz PM (1996) Visual pigment gene structure and the severity of color vision defects. Science 274: 801–804.

Neitz M, Carroll J, Renner A et al. (2004) Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope. Visual Neuroscience 21: 205–216.

Neitz M, Neitz J and Jacobs GH (1991) Spectral tuning of pigments underlying red–green colour vision. Science 252: 971–974.

Shevell SK, He JC, Kainz P, Neitz J and Neitz M (1998) Relating color discrimination to photopigment genes in deutan observers. Vision Research 38: 3371–3376.

Sundin OH, Yang JM, Li Y et al. (2000) Genetic basis of total colour blindness among the Pingelapese islanders. Nature Genetics 25(3): 289–293.

Thiadens AA, Somervuo V, van den Born LI et al. (2010) Progressive loss of cones in achromatopsia: an imaging study using spectral‐domain optical coherence tomography. Investigative Ophthalmology & Visual Science 51(11): 5952–5957.

Weitz CJ, Miyake Y, Shinzato K et al. (1992a) Human tritanopia associated with two amino acid substitutions in the blue sensitive opsin. American Journal of Human Genetics 50: 498–507.

Weitz CJ, Went LN and Nathans J (1992b) Human tritanopia associated with a third amino acid substitution in the blue sensitive pigment. American Journal of Human Genetics 51: 444–446.

Wissinger B, Gamer D, Jägle H et al. (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. American Journal of Human Genetics 69: 722–732.

Further Reading

Birch J (1993) Diagnosis of Defective Colour Vision. New York, NY: Oxford University Press.

Nathans J (1989) The genes for colour vision. Scientific American 260: 24–49.

Neitz J, Carroll J and Neitz M (2001) Colour vision: almost reason enough for having eyes. Optics and Photonics News 12: 26–33.

Neitz M and Neitz J (1998) Molecular genetics and the biological basis of colour vision. In: Backhaus WGK, Reinhold K and Werner JS (eds) Color Vision: Perspectives from Different Disciplines, pp. 101–119. New York, NY: Walter de Gruyter.

Neitz M and Neitz J (2000) Molecular genetics of colour vision and colour vision defects. Archives of Ophthalmology 118: 691–700.

Piantanida T (1988) The molecular genetics of colour vision and colour blindness. Trends in Genetics 4: 319–323.

Sharpe LT, Stockman A, Jägle H and Nathans J (1999) Opsin genes, cone photopigments, colour vision, and colour blindness. In: Gegenfurtner KR and Sharpe LT (eds) Colour Vision: From Genes to Perception, pp. 3–52. New York, NY: Cambridge University Press.

Web Links

Color Vision Molecular Genetics. Neitz color vision website http://www.neitzvision.com/

Opsin 1 (Cone Pigments), Long‐wave‐sensitive (Color Blindness, Protan) (OPN1LW); Locus ID: 5956. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5956

Opsin 1 (Cone Pigments), Long‐wave‐sensitive (Color Blindness, Protan) (OPN1LW); MIM number: 303900. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?303900

Opsin 1 (Cone pigments), Medium‐wave‐sensitive (Color Blindness, Deutan) (OPN1MW); Locus ID: 2652. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2652

Opsin 1 (Cone Pigments), Medium‐wave‐sensitive (Color Blindness, Deutan) (OPN1MW); MIM number: 303800. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?303800

Opsin 1 (Cone Pigments), Short‐wave‐sensitive (Color Blindness, Tritan) (OPN1SW); Locus ID: 611. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=611

Opsin 1 (Cone Pigments), Short‐wave‐sensitive (Color Blindness, tritan) (OPN1SW); MIM number: 190900. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?190900

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How to Cite close
Neitz, Maureen, Mancuso, Katherine, and Neitz, Jay(Sep 2011) Colour Vision Defects. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006000.pub2]