COLOR BLINDNESS

1. COLOR BLINDNESS Lian Yu Ms. Knudsen Period 6 12/00/09

2. CAUSE OF DISORDER A sex-linked, or X-linked disorder. Both mother and father can pass on this disorder. (Fathers to daughters, mothers to sons and daughters) How is it inherited? Fathers with a form of red-green color blindness pass the X-linked gene to their daughters, not sons. Sons cannot receive X-linked genetic material from his father. When the mother passes this X-linked trait to him, he will inherit the color vision deficiency. A daughter who inherits the color-deficient gene from her father is only a carrier if her mother does not have the color-deficient gene. If she inherits the X-linked trait from both father and mother, then she will be color blind and also a carrier. Recessive trait The gene that causes this disorder has been located. Red-green color blindness and blue cone monochromacy are encoded on the X chromosome. Blue-yellow color blindness encoded in genes on chromosome 7, and rod monochromacy is encoded on chromosome 2 or 8. Other causes of color blindness: Parkinson�s desease, clouding of the cataracts, Tiagabine for epilepsy, LHON, and Kallman�s syndrome.

3. KARYOTYPE

4. STATISTICS About 1 out of 12 people have some sort of color deficiency. Approximately 1 in 76/1.30%/3.5 million people in USA About 0.005% of the population of the US are completely color blind Worldwide, 8% of men, 1% of women Specific groups: There are abnormalities of color vision pigment genes in 15.7% of Caucasian men. 8% to 12% of people with European origin are colorblind, and 75% of these have a defect in the green/deutan series, while the remaining 25% have a defect in the red/protan series. More men suffer from color blindness than women.

5. SIGNS There are no physical signs coming with being colorblind. Colorblindness is usually first noticed on a screening test, or if there is an apparent difficulty learning some or all of the colors. Dr. Greene, http://www.drgreene.com/21_1052.html Image: http://aspnetresources.com/images/Denver_airport_simulation.jpg

6. SYMPTOMS The symptoms depend on different factors, like whether the problem is congenital, acquired, partial, or complete. difficulty distinguishing reds and greens, which is more common difficulty distinguishing blues and greens, which is less common In more serious and inherited vision problems, the following might occur. Objects appear as various shades of gray (this occurs with complete color blindness and is very rare) Reduced vision Nystagmus

7. GRAPHICS AND IMAGES [left] A person with color blindness is no different than a person without, other than how their eyes view colors. [right] The flag on the top is viewed by non-colorblind people. The flag on the far left is viewed by green-blind people. The flag on the far right is viewed by red-blind people. The flag in the middle left is viewed by violet-blind people. The flag in the middle right is viewed by completely color blind people, which is the rarest form.

8. QUALITY OF LIFE For a person with color blindness, everyday life would not be very different (how they do their everyday activities), other than how they view the world. The person with color blindness cannot see colors as most other people do. �After a while, how would you feel?... �Every day, even people close t you - friends, wives, girlfriends, etc, ask you �wouldn't the color in that wallpaper pick up the warm highlights in our carpet?� Or maybe �honey, how do you like my new eye shadow, doesn't it compliment my eye color nicely?� Or better yet, you are a 10 year old at summer camp and the counselor tells you "Okay John, today you play football on the red team" but you don't see the red team, or you cannot tell the difference between the reds and the greens. � Stated by Joseph G. O�neil, who suffers from color blindness. Because 90% of all information received is through vision (5% via hearing, 2% touching, 2% tasting, 1% smelling) not being able to conceive colors generally lowers the quality of life. The life expectancy of a person with color blindness is not different from a person without it. However, they are more subject to traffic incidents. Color blindness support groups: MD Junction, Optusnet AU, Daily Strength

9. DIAGNOSIS AND DETECTION At children�s four-year physicals, colorblindness is usually tested by asking them to identify a red and a green line on an eye chart. Colored charts called Ishihara Test Plates are most commonly used to detect a color vision deficiency. On the plate is a number created with colored dots. The patient is asked to identify the number. If the patient cannot see the number clearly, they most likely have a color vision defect. In another type of test, you arrange colored chips in order according to how similar the colors are. People with color vision problems cannot arrange the colored chips correctly

10. TREATMENT, CURE, AND THERAPY There is no medical treatment for color blindness. Depending of the cause, some color vision problems can be treated. (i.e. If a cataract is causing the problem, surgery to remove the cataract may restore normal color vision) Things that help a color vision problem: Specially tinted contact lenses and eyeglasses Glasses with wide temples or side shields that block the glare of bright light help because color deficient people tend to be able to tell apart colors when the lighting is dim. Currently, there is no cure for the disorder. The disorder does not leave any scars, paralysis, brain damage, etc.

11. Current Research Ishihara Test in 3- to 6- year old children. Choi SY, Hwang JM They investigated the efficacy of a modified Ishihara color test in preschoolers. Gene therapy for red-green colour blindness in adult primates. Mancuso K, Hauswirth WW, Li Q, Connor TB, Kuchenbecker JA, Mauck MC, Neitz J, Neitz M. The possibility of curing color blindness using gene therapy in experiments on adult monkeys that had been color blind since birth is explored. Perceived color of hallucinations in the Charles Bonnet Syndrome is related to residual color contrast sensitivity. Madill SA, Lascaratos G, Arden GB, ffytche DH. They determined whether the change in cortical excitability secondary to deafferentation in patients with CBS is related to an alteration in color contrast thresholds and whether the change is specific to the color of the hallucination Gene therapy for color blindness. Bennet J. They studied gene therapy for color blindness. Jugular Venous Reflux Affects Ocular Venous System in Transient Monocular Blindness. Chung CP, Hsu HY, Chao AC, Cheng CY, Lin SJ, Hu HH. They set out to prove that JVR influences ocular venous outflow, and resulting disturbances in cerebral and ocular venous circulation might be a cause of Transient Monocular Blindness.

12. PEDIGREE

13. NCBI: OMIM IDENTIFIER

14. NCBI GENE MAP LOCUS

15. GENE ID

16. BIBLIOGRAPHY All About Vision, http://www.allaboutvision.com/conditions/colordeficiency.htm Blinn College, http://www.blinn.edu/socialscience/LDThomas/Feldman/Handouts/0203hand.htm Colblindor, http://www.colblindor.com/2006/06/02/chromosomes-involved-in-color-blindness/ Iamcal, http://www.iamcal.com/toys/colors/stats.php Blurtit, http://www.blurtit.com/q137236.html NCIB , http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303800 Prevent Blindness, http://www.preventblindness.org/eye_problems/colorvision.html WD, http://www.wrongdiagnosis.com/c/color_blindness/stats-country.htm Dr. Greene, http://www.drgreene.com/21_1052.html St. Lukes�s Cataract and Laser Institute, http://www.stlukeseye.com/Conditions/ColorBlindness.asp Macalester.edu, http://www.macalester.edu/psychology/whathap/ubnrp/visionwebsite04/achromatopsia.html Web MD, http://www.webmd.com/eye-health/tc/color-blindness-topic-overview NCIB, http://www.ncbi.nlm.nih.gov/pubmed/ OMIM, http://www.ncbi.nlm.nih.gov/omim/ Organizations: MD Junction, Optusnet AU, Daily Strength