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Color Blindness

Research on the genetic disorder, Color Blindness, including the explanation, causes, symptoms, testing, and extended research.
by

Giabella Caparimo

on 10 May 2016

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Transcript of Color Blindness

C
o
l
o
r
Blindness

What is color blindness?
Also known as color deficiency, color blindness is a sex-linked disorder carried in the X-chromosome.
The inability to distinguish colors is caused by an absence of color-sensitive pigment in the cone cells of the retina, the nerve layer at the back of the eye.
Red-green colorblindness is caused by deficiencies in L-cones (long wavelength) and M-cones (medium wavelength). Deficiencies of S-cones (short wavelength cones) cause yellow-blue colorblindness.
Deuteranomaly- M-cone defect
Protanomaly- L-cone defect
Statistics
CAUSES OF DISORDER

Types and Statistics
How is it inherited?
It is the inability to distinguish the difference between certain colors. Red-green deficiency is most common, contradicting the given name "blindness". In fact, less than 0.0001% of people have Achromatopsia, the absence of color vision, seeing in only shades of gray.
KARYOTYPE
The gene for different forms of color blindness is found on chromosomes X, 2,7, or 8.
Red-green
color blindness and
blue
cone monochromacy are encoded and the
X
-chromosome.
Blue-yellow
color blindness encoded in genes on chromosome
7
.
Rod monochromacy
-- having no cones-- is encoded on chromosome
2 or 8
.
Further Studies
COLOR DIFFERENTIATION
Source: Color Universal Design (CUD)

How is it caused?
Cones are active at higher light levels (photopic vision), are capable of color vision and are responsible for high spatial acuity. There are 3 types: the short-wavelength sensitive cones (S-cones), the middle-wavelength sensitive cones (M-cones) and the long-wavelength sensitive cones(L-cones).
Protanopia
Deuteranopia
Tritanopia
Source: SCI-FUN Shows
In the case of a female, she is given two X-chromosomes. If only the father passes the X-linked trait to his daughter then she is only a carrier. However, if she inherits the X-linked trait from both her father and mother then she will be both color deficient and a carrier.
In the case of a male, the son is only given one X-chromosome from the mother, so any linked genetic material is strong since there is only one. Men do not have a spare X-chromosome like women so if the red-green blind gene isn't working there is no spare. Therefore, the son is colorblind.
Types of Color Blindness and Rarity are as follows:
This is a recessive trait.
Source: INKBIO
About 1 in 12, or 8%, males have some form of colorblindness.Very few females are colorblind. 8-10% of men are colorblind and less than 1%, or 1 in 200, of women are (US National Library of Medicine).
Defects occur more often than absences
Most Common
Source: WebExhibits
Problematic Colors:


Deuteran (green)- Green/red, green/blue, green/gray, green/brown, blue/purple, orange/red, yellow/orange.
Protan (red)- purple/dark blue, orange/green, brown/dark green, red/brown, green/yellow, gray/purple
Tritan (blue)- blue/yellow, violet/yellow-green, red/red-purple, dark blue/black, yellow/white
Color blindness is detected through regular eye examinations. For further study, Ishihara Test Plates (color dot exam) are performed on the patient. These tests are also used on people with normal color vision.
There is no cure or treatment for this genetic disorder. However, there are tinted glass lenses (EnChroma.com) or color correcting contacts to temporarily fix the issue, although it is capable to be independent with out the correctors, as most individuals are.
BIBLIOGRAPHY
Websites:
http://colorvisiontesting.com/online%20test.htm
Source: WikiMedia Foundation
Source: Color Universal Design (CUD)
"A Quick Introduction to Colorblindness." We Are Colorblind. N.p., 10 Jan. 2012. Web. 19 Apr. 2016. <http://wearecolorblind.com/article/a-quick-introduction-to-color-blindness/>.

Biggs, Taryn, and Susan McPhail. "Causes and Incidence of Colorblindness." Causes & Incidence | Causes of Color. WebExhibits, n.d. Web. 17 Apr. 2016. <http://www.webexhibits.org/causesofcolor/2C.html>.

"Color Blindness: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 1 June 2011. Web. 19 Apr. 2016. <http://www.nlm.nih.gov/medlineplus/ency/article/001002.htm>.

"Color Vision Deficiency." Genetics. N.p., 17 Apr. 2014. Web. 18 Apr. 2016. <http://ghr.nlm.nih.gov/condition/color-vision-deficiency>.

"Rods & Cones." Rods & Cones. N.p., n.d. Web. 17 Apr. 2016. <http://www.cis.rit.edu/people/faculty/montag/vandplite/pages/chap_9/ch9p1.html>.

Graphics:
Color Blindness. Digital image. Wikipedia. Wikimedia Foundation, Apr. 2014. Web. 18 Apr. 2016. <http://en.wikipedia.org/wiki/Color_blindness>.

Color Universal Design (CUD) / Colorblind Barrier Free. Digital image. Color Universal Design (CUD) / Colorblind Barrier Free. N.p., n.d. Web. 18 Apr. 2016. <http://jfly.iam.u-tokyo.ac.jp/color/>.

Colorblindness. Digital image. Colorblindness by Keith Schmidt and Erik Maday. N.p., n.d. Web. 20 Apr. 2016. <http://www.hinsdale86.org/staff/kgabric/Disease11/Colorblindness/>.

Karyotype. Digital image. INKBIO. N.p., n.d. Web. 18 Apr. 2016. <http://inkbio.wikispaces.com/Karyotype>.

SCI-FUN Shows -- The Senses -- Colour-blindness. Digital image. SCI-FUN Shows -- The Senses -- Colour-blindness. N.p., n.d. Web. 19 Apr. 2016. <http://www.scifun.ed.ac.uk/pages/about_us/shows_colour-blindness.html>.

What Is Color-Blindness. Digital image. Color Matters. N.p., n.d. Web. 17 Apr. 2016. <http://www.colormatters.com/color-and-vision/what-is-color-blindness>.

Shown is a colorblind male karyotype.
In the diagram shown, the first generation contains an unaffected male mating with a carrier female. The two have four offspring including one unaffected son, one unaffected daughter, one carrier daughter, and one unaffected son.
Example Pedigree:
Source:
Colorblindness by Keith Schmidt and Erik Maday
Quick Facts:
- Color-blind people favor the color blue due to its richness.
-Has nothing to do with eye color, but deals with the rods in the eye.
- Facebook is blue because CEO Mark Zuckerberg has red-green colorblindness.
-Traffic light is viewed top to bottom as : Red, Yellow, and White/Very faint green.

http://www.today.com/news/colorblind-man-sees-purple-first-time-seeing-magic-real-life-t32751
Full transcript