NAME AYESHA KHAN ROLL NO 04 SUBJECT - GENETICS FACULTY ANITA RAO

COLOR BLINDNESS
Color blindness, or color vision deficiency, is the inability or decreased ability to see color, or perceive

color differences, under normal lighting conditions.

There is no actual blindness but there is a deficiency of color vision.
It is very rare that a person can't see colors at all, more

likely that they can't distinguish shades of red, green, or blue.

The Retina Contains Two Types of Light-Detecting Cells

The typical human retina contains two kinds of light cells:

the rod cells (active in low light) and the cone cells (active in normal daylight). Normally, there are three kinds of cones, each containing a different pigment, which are activated when the pigments absorb light.
These receptors are often called S cones,

M cones, and L cones, for short, medium, and long wavelength; but they are also often referred to as blue cones, green cones, and red cones, respectively.

Different Types of Color Blindness

Monochromacy: occurs when two or all three of the cone

pigments are missing and color and lightness vision is reduced to one dimension.
Total color blindness

Dichromacy: occurs when only one of the cone pigments is

missing and color is reduced to two dimensions.

Partial color blindness

red-green blue-yellow

Types
There are two major types of color blindness: those who have difficulty distinguishing between red and green, and who have difficulty distinguishing between blue and yellow. Redgreen Dichromacy (one of the three basic color mechanisms is absent or not functioning. It is hereditary) Anomalous trichromacy (one of the three cone pigments is altered in its spectral sensitivity) Blueyellow Dichromacy (tritanopia) Anomalous trichromacy (tritanomaly)

Different types of color blindness and how do they see the world
Deuteranomaly people only see a little green. A lot of colors

dull and pinks turn almost completely purple.

Tritanomaly people only see a little blue. All the bright colors

dull and bright green turns into a dull blue.

Protanopia people see no red at all. Blues dull, greens turn

yellow, and reds turn brown.

Deutanopia people see no green at all. Reds come out a little

more though, and blues are brighter.

Tritanopia people see no blue at all. They can see red perfectly

fine, but blue turns much darker, almost blackish.

How Color-Blind People See Things

Normal

Defect in L-cone (poor red vision)

Defect in M-cone (poor green vision)

Defect in S-cone (poor blue vision)

Genetics Color blindness can be inherited. It is most commonly inherited from mutations on the X chromosome.

Causes

Other causes
Other causes of color blindness include brain or retinal damage, accidents and other trauma which produce swelling of the brain in the occipital lobe, and damage

to the retina caused by exposure to ultraviolet light(10 300 nm).

Color blindness may also present itself in the spectrum of degenerative diseases of the eye, such as agerelated mascular degeneration, and as part of the retinal damage caused by diabetes. Another factor that may affect color blindness includes a deficiency in Vitamin A.

Diagnosis
Ishihara color test which consists of a series of pictures

of colored spots, is the test most often used to diagnose redgreen color deficiencies. A figure is embedded in the picture as a number of spots in a slightly different color, and can be seen with normal color vision, but not with a particular color defect.

THE INHERITENCE PATTERN

It is a sex- linked trait when inherited (not acquired) Caused by a gene on the X chromosome

It is a recessive
More common in males.

 Gene OPN1MW GC0XP148439 Start: 148,439,714 bp from pter End: 148,453,078 bp from pter Size:13,364 bases Orientation: plus strand

 Gene OPN1LW

GC0XP147547
Start: 147,547,307 bp from pter End: 147,561,950 bp from pter

Size: 14,643 bases

Orientation: plus strand

Punnett Squares for X-linked Traits: Why Color-Blindness is More Common in Males

Rhodospin, the receptor protein in rod cells, crosses the disc membrane seven times. Its odd shape is shared by three receptor proteins in cone cells. Retinal (which absobs light) is shown in purple. The other balls (yellow) represent amino acids which make up the rhodospin structure.

Chromosomes Involved in Color Blindness

Signs& Symptoms
Symptoms may very from person to person. Different types of colorblindness exist in the world, in red-green color blindness, the colors of Red, Orange, Yellow, and Green, as well as all their shades will look the same to you. In other types of colorblindness you may not be able to see a certain color, or distinguish shades of color. Some people who are completely colorblind only see Black& White.

*Does not affect life expectancy*

Symptoms
Red-green : see colours differently and problems

differentiating between different colour hues.

Blue-yellow : problem differentiating between blue

and green.
No colour vision :can see only shades of white,grey,

and black.

TREATMENT
Color Blindness Cure-Curing color blindness is currently

impossible. 99% of color blind males and females are color blind as a result of defective genetics on the X chromosome. To cure this color blindness would require some form of gene therapy, repairing the damaged chromosome. Color Blindness Correction-Recent developments in light filtering lenses have made it possible to provide color blind people with a greater ability to distinguish between certain shades that otherwise look the same. Eye Care- care should be taken if exposed to sun light or exposed to chemicals every day .

Gene therapy (latest research)

Recently research have been done to cure color

blindness by gene therapy.

Gene therapy has successfully allowed red-green color-

blind monkeys to see new colours that they have never seen before.
The first step in moving the treatment forward will be

determining its safety for use in human patients.

Latest news of color blindness in India

Delhi: 600 DTC drivers colour blind Information

Commissioner revealed | Updated: January 22, 2014 15:43 New Delhi: Travelling by DTC bus? Think twice as about 600 drivers are alleged to be colour blind but still driving on the basis of fake medical fitness certificates. This serious issue concerning safety of passengers has been brought to the notice of Delhi Chief Minister Arvind Kejriwal by Information Commissioner M Sridhar Acharyulu

Famous instances of color blindness

Facebooks colour scheme is blue because its founder

(Mark Zuckerberg) is red-green colour blind.

The auther Christopher Paolini is colour blind and so

in his books made dragons colour vision different to that of normal humans so that their colour vision would match his own
Howiem andel is colour blind.

THANK YOU