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COLOR VISION

How does color vision function? What causes color vision deficiency (CVD)? Can CVD be treated?

Kelsea Brajkovich and Peder Digre

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.

Anatomy of the Eye

Figure from "Webvision: Simple Anatomy of the Retina"

The Retina Contains Photoreceptors


Rods o Sensitive o Slow to Saturate o Light / Dark Cones o Less Sensitive o Fast o Almost Impossible to Saturate o Well-Suited for Bright Light o Depend on the Energy of the Wavelength
Images from "Webvision: Simple Anatomy of the Retina"

Rods & Cones

Rod Cell

Images from: "Wikipedia: Cone Cell" & "Wikipedia: Rod Cell"

Additive & Subtractive Colors

"The Perception of Color." 1995.

Eye Sensitivity to Colors

Image From: "Wikipedia: Color Vision"

Photopigments

Trivariant color vision evolved in primates o Original "L" cone became "M" when an even longer wavelength cone evolved

"Color Vision." 1995.

Simplified Model of Human Color Vision

"The Perception of Color." 1995.

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

"The Genetics of Normal and Defective Color Vision." 2011

Red-Green Color Blindness is Sex-Linked

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

"The Genetics of Normal and Defective Color Vision." 2011

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:

Image: "As Seen By the Color Blind" 2008

Text: Wikipedia "Color Blindness." 2011

Types of Color Vision Deficiences

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

"The Perception of Color." 1995.

Color Vision Deficiencies

Less Sensitive to Red Red-Green Red-Green -Yellow No Color


"The Perception of Color." 1995.

Shifts from Blue to Green Blue-Yellow

Chromaticity (CIE) Diagram used to Develop Diagnostic Color Vision Test


Confusion lines: join points that appear the same color for dichromats. Note the number of lines.

"The Perception of Color." 1995

Ishihara Test
(a) The transformation plate, Normal: 3 CVD: 5 (b) Vanishing plate, Normal: 73 CVD: cannot be read

(a) Hidden-digit plate Normal: no image CVD: 5

(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 Panel D-15

Farnsworth 100-Hue

"The Perception of Color." 1995

Other CVD Tests

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.

"Color Blindness Tests." 2001

Treating Color Blindness


Colored Contacts: ChromaGen Can only alter perceived colors, cannot enhance the spectrum. Gene Therapy Successful in Animal Testing Human CNGB3 injected into canines, resulting in sustained cone function rescue Adult monkeys, color blind since birth. Trichromacy given through gene therapy: provided third opsin. Provides positive outlook for curing vision disorders in adult humans in the future
Colblindor "Color Blindness: Can Colored Contacts Help You?" 2010 "Gene Therapy for red-green colour blindness in adult primates" 2009

What does the future hold?


Animal experiments show potential for successful correction of vision disorders Treatment of CVD early stages mechanism of color vision not fully understood Correcting CVD is a low priority risk-benefit ratio of correcting color vision does not encourage further development

"Gene Therapy for Color Blindness." 2009

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.