SHADES OF DNA
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Color vision deficiency - Genetics Home Reference - NIH
Learn more. Teacher Work Day. District PD Day. School PD Day. This condition occurs in fewer than 1 in 10, people worldwide. Blue cone monochromacy is rarer than the other forms of color vision deficiency , affecting about 1 in , people worldwide. Like red-green color vision defects, blue cone monochromacy affects males much more often than females. The proteins produced from these genes play essential roles in color vision.
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They are found in the retina , which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones , that transmit visual signals from the eye to the brain. Rods provide vision in low light.
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Cones provide vision in bright light, including color vision. There are three types of cones, each containing a specific pigment a photopigment called an opsin that is most sensitive to particular wavelengths of light. The brain combines input from all three types of cones to produce normal color vision. These changes lead to an absence of L or M cones or to the production of abnormal opsin pigments in these cones that affect red-green color vision. These mutations lead to the premature destruction of S cones or the production of defective S cones.
Impaired S cone function alters perception of the color blue, making it difficult or impossible to detect differences between shades of blue and green and causing problems with distinguishing dark blue from black. In people with this condition, only S cones are functional, which leads to reduced visual acuity and poor color vision.
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The loss of L and M cone function also underlies the other vision problems in people with blue cone monochromacy. Some problems with color vision are not caused by gene mutations.
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