How does color vision function? What causes color vision deficiency (CVD)? Can CVD be treated?
There is no color in the external world; it is created by neural programs and projected onto the outer world we see.
Vision is the most fundamental of our senses The eye separates two qualities of light, energy (intensity) and wavelength, to form a perception of color Millions of different colors can be perceived Full mechanism of color vision is still a mystery
"Color Vision." 1995.
Rod Cell
Photopigments
Trivariant color vision evolved in primates o Original "L" cone became "M" when an even longer wavelength cone evolved
Causes
Acquired
damage to retina, optic nerve, brain (specifically lateral geniculate nucleus of the thalyus or the visual cortex) UV light damage to the retina glaucoma macular degeneration diabetic retinopathy cataracts
Congenital
cone dystrophy cone-rod dystrophy achromatopsia blue cone monochromatism (absence of L and M cones) Leber's congenital amaurosis. Retinis pigmentosa (initially affects rods but can later progress to cones and therefore color blindness, X-linked) Selected for by Evolution
L and M opsin genes located on X chromosome L and M opsin genes are adjacent to one another, with no intervening genes. High frequency of recombination similarity leads to unequal homologous recombination during meiosis in females Tetrachromatic females
Autosomal Mutations
Tritanopia (M cone opsin gene) aka blue-yellow color blindness autosomal dominant inheritance simple mutation on Chromosome 7 Rod Monochromancy (Achromatopsia) rare autosomal recessive, mutations in CNGA3 or CNGB3 incomplete achromatopsia:
Types o Monochromasy Only one type of cone present Lack of color vision o Dichromasy Two types of cones present o Anomalous Trichromasy One cone has shifted wavelength sensitivity Classifications o Protan Longer wavelength cone missing or anomalous o Deutan Middle wavelength cone missing or anomalous o Tritan Shorter wavelength cone missing or anomalous
Ishihara Test
(a) The transformation plate, Normal: 3 CVD: 5 (b) Vanishing plate, Normal: 73 CVD: cannot be read
(b) Diagnostic plate Normal: 26 Deutan: 2 more easily Protan: 6 more easily
Ishihara plates can only be used to classify red-green color vision deficiencies.
Farnsworth 100-Hue
Lantern Tests Holmes-Wright lanterns: Lights are shown in pairs of two, low or high brightness, either vertically or horizontally aligned. The test person is asked to name the colors. Farnsworth lantern (Falant): This is the standard test in the US. It is comparable to the Holmes-Wright lantern but is specially designed to pass people with a mild form of color vision deficiency. practical, used for vocational purposes. Not very effective for determining specific type or severity of deficiency
http://www.colblindor.com/2010/03/23/color-blindness-tests/
most accurately tests the severity of color blindness distinguishes between dichromats and anomalous trichromats.
References
Azam, Maleeha, Rob W.J. Collin, Syed Tahir Abbas Shah, Aftab Ali Shah, Muhammad Imran Khan, Alamdar Hussain, Ahmed Sadeque, Tim M. Strom, Alberta A.H.J. Thiadens, Susanne Roosing, Anneke I. den Hollander, Frans P.M. Cremers, and Raheel Qamar. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis. 2010; 16: 774781. Published online 2010 April 29. Barone, Jennifer (2007). "THE UPSIDE OF COLOR BLINDNESS.". Discover (Chicago, Ill.) (0274-7529), 28 (4), p. 17. Bennett J. Gene therapy for color blindness. N Engl J Med. 2009 Dec 17; 361 (25) :2483-4. PubMed PMID:20018970.
Demb JB, Brainard DH. Vision: Neurons show their true colours. Nature. 2010 Oct 7; 467 (7316) :670-1. PubMed PMID:20930837. Dolgin, Elie. Colour blindness corrected by gene therapy. Published online 16 September 2009 | Nature | doi:10.1038/news.2009.921 Elsevier. Reading in two colors at the same time: Patterns of synesthesia brain activity revealed. Science Daily, 11 Mar. 2011. Web 21 Apr. 2011.
Fluk, Daniel. "Color Blindness Tests." Color Blindness Viewed through Colorblind Eyes. 23 Mar. 2010. Web. 13 May 2011. <http://www.colblindor.com/2010/03/23/color-blindness-tests/>. Gouras P, Kolb H, Fernandez E, Nelson R. Color Vision. 1995; PubMed PMID:21413395. Kalloniatis M, Luu C, Kolb H, Fernandez E, Nelson R. The Perception of Color. 1995; PubMed PMID:21413396. Khachadurian, A.K., R Freyha, M M Shamma'a, and S A Baghdassarian Arch Dis Child. " A-beta-lipoproteinaemia and colour-blindness. 1971 December; 46(250): 871873. Komromy, A.M., J.J. Alexander, J.S. Rowlan, M.M. Garcia, V.A. Chiodo, A. Kaya, J.C. Tanaka, G.M. Acland, W.W. Hauswirth, G.D. Aguirre. Gene therapy rescues function in congentital achromatopsia. Hum Mol Genet. 2010 July 1; 19 (13): 2581-93. PubMed PMID: 20378608; Pub Med Central PMCID: PMC2883338. Komromy AM, Alexander JJ, Cooper AE, Chiodo VA, Glushakova LG, Acland GM, Hauswirth WW, Aguirre GD. Targeting gene expression to cones with human cone opsin promoters in recombinant AAV. Gene Ther. 2008 Jul; 15 (14) :1049-55. PubMed PMID:18337838; PubMed Central PMCID: PMC2726772. Jacobs GH. Evolution of colour vision in mammals. Philos Trans R Soc Lond B Biol Sci. 2009 Oct 12; 364 (1531) :2957-67. PubMed PMID:19720656; PubMed Central PMCID: PMC2781854. Juny YJ, Sohn H, Lee SI, Ro YM, Park HW. Quantitative measurement of binocular color fusion limit for non-spectral colors. Opt Express.
References (Continued)
Neitz J, Neitz M. The genetics of normal and defective color vision. Vision Res. 2011 Apr 13; 51 (7) :633-51. PubMed PMID:21167193; PubMed Central PMCID: PMC3075382. Psychol, J. Gen. The influence of color information on the recognition of color diagnostic and noncolor diagnostic objects. 2011 Jan-Mar;138(1):49-65. Rabin J, Gooch J, Ivan D. Rapid quantification of color vision: the cone contrast test. Invest Ophthalmol Vis Sci. 2011 Feb; 52 (2) :816-20. PubMed PMID:21051721. Shapely, Robert. Vision: Gene therapy in colour. Nature. 2009 Oct 8;461(7265):737-9.