Color blindness in the context of X chromosome


Color blindness in the context of X chromosome

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⭐ Core Definition: Color blindness

Color blindness, color vision deficiency (CVD), color anomaly, color deficiency, or impaired color vision is the decreased ability to see color, differences in color, or distinguish shades of color. The severity of color blindness ranges from mostly unnoticeable to full absence of color perception.

Color blindness is usually a sex-linked inherited problem or variation in the functionality of one or more of the three classes of cone cells in the retina, which mediate color vision. The most common form is caused by a genetic condition called congenital red–green color blindness (including protan and deutan types), which affects up to 1 in 12 males (8%) and 1 in 200 females (0.5%). The condition is more prevalent in males, because the opsin genes responsible are located on the X chromosome. Rarer genetic conditions causing color blindness include congenital blue–yellow color blindness (tritan type), blue cone monochromacy, and achromatopsia. Color blindness can also result from physical or chemical damage to the eye, the optic nerve, parts of the brain, or from medication toxicity. Color vision also naturally degrades in old age.

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Color blindness in the context of Cone cell

Cone cells or cones are photoreceptor cells in the retina of the vertebrate eye. Cones are active in daylight conditions and enable photopic vision, as opposed to rod cells, which are active in dim light and enable scotopic vision. Most vertebrates (including humans) have several classes of cones, each sensitive to a different part of the visible spectrum of light. The comparison of the responses of different cone cell classes enables color vision. There are about six to seven million cones in a human eye (vs ~92 million rods), with the highest concentration occurring towards the macula and most densely packed in the fovea centralis, a 0.3 mm diameter rod-free area with very thin, densely packed cones. Conversely, like rods, they are absent from the optic disc, contributing to the blind spot.

Cones are less sensitive to light than the rod cells in the retina (which support vision at low light levels), but allow the perception of color. They are also able to perceive finer detail and more rapid changes in images because their response times to stimuli are faster than those of rods. In humans, cones are normally one of three types: S-cones, M-cones and L-cones, with each type bearing a different opsin: OPN1SW, OPN1MW, and OPN1LW respectively. These cones are sensitive to visible wavelengths of light that correspond to short-wavelength, medium-wavelength and longer-wavelength light respectively. Because humans usually have three kinds of cones with different photopsins, which have different response curves and thus respond to variation in color in different ways, humans have trichromatic vision. Being color blind can change this, and there have been some verified reports of people with four types of cones, giving them tetrachromatic vision.The three pigments responsible for detecting light have been shown to vary in their exact chemical composition due to genetic mutation; different individuals will have cones with different color sensitivity.

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Color blindness in the context of John Dalton

John Dalton FRS (/ˈdɔːltən/; 5 or 6 September 1766 – 27 July 1844) was an English chemist, physicist, and meteorologist whose work laid the foundations of modern atomic theory and stoichiometric chemistry. Building on earlier ideas about the indivisibility of matter and his own precise measurements of combining ratios, Dalton proposed that each chemical element consists of identical atoms of characteristic weight, and that compounds are formed when atoms of different elements combine in fixed whole-number proportions. His A New System of Chemical Philosophy (1808) presented a coherent atomic model, supplied relative atomic weights and symbolic notation, and established the quantitative framework that shaped nineteenth-century chemistry and remains the basis of modern chemical thought.

Dalton was also a pioneering meteorologist and physicist, keeping daily weather observations for over fifty years, formulating the first empirical law of partial pressures (later known as Dalton’s Law), and studying the behavior of gases through his work on vapor pressure and gas solubility. His investigations into his own color blindness led to the first scientific description of the condition—still called Daltonism in several languages—and helped establish experimental methods for linking perception with physiology. Elected a Fellow of the Royal Society in 1822 and awarded its Royal Medal in 1826, Dalton became the first British scientist to develop a quantitative atomic theory and one of the key figures in the transition of chemistry from a qualitative to a mathematical science.

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Color blindness in the context of Spanish-style bullfighting

Spanish-style bullfighting is a type of bullfighting that is practiced in several Spanish-speaking countries: Spain, Mexico, Ecuador, Venezuela, Peru, as well as in parts of southern France and Portugal. In Colombia it has been outlawed but is being phased out with a full ban coming in effect in 2027. This style of bullfighting involves a physical contest with humans (and other animals) attempting to publicly subdue, immobilize, or kill a bull. The most common bull used is the Spanish Fighting Bull (Toro Bravo), a type of cattle native to the Iberian Peninsula. This style of bullfighting is seen to be both a sport and performance art. The red colour of the cape is a matter of tradition – bulls are color blind. They attack moving objects; the brightly-colored cape is used to mask blood stains.

In a traditional corrida, three toreros (or matadores) each fight against two out of a total of six fighting bulls to death, each bull being at least four years old and weighing up to about 600 kg (1,300 lb) with a minimum weight limit of 460 kg (1,010 lb). Bullfighting season in Spain runs from March to October. The practice is also known as a corrida de toros ("bull-running"), toreo or tauromaquia (English: tauromachy). Since the late 1980s, bullfighting in Spain has declined in popularity due to animal welfare concerns, its association with blood sport, and its links to nationalism.

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Color blindness in the context of Congenital red–green color blindness

Congenital red–green color blindness is an inherited condition that is the root cause of the majority of cases of color blindness. It has no significant symptoms aside from its minor to moderate effect on color vision. It is caused by variation in the functionality of the red and/or green opsin proteins, which are the photosensitive pigment in the cone cells of the retina, which mediate color vision. Males are more likely to inherit red–green color blindness than females, because the genes for the relevant opsins are on the X chromosome. Screening for congenital red–green color blindness is typically performed with the Ishihara or similar color vision test. It is a lifelong condition, and has no known cure or treatment.

This form of color blindness is sometimes referred to historically as daltonism after John Dalton, who had congenital red–green color blindness and was the first to scientifically study it. In other languages, daltonism is still used to describe red–green color blindness, but may also refer colloquially to color blindness in general.

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Color blindness in the context of Blue cone monochromacy

Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects males.

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Color blindness in the context of Achromatopsia

Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide.

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Color blindness in the context of OPN1MW2

OPN1MW2 is a duplication of the OPN1MW gene, which encodes the medium wavelength sensitive (MWS) photopsin. The gene duplication is present in about 50% of X-chromosomes, so is present in 50% of males and at least once in 75% of females. It caused by the same mechanism that causes congenital red-green color blindness, the most common form of color blindness.

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Color blindness in the context of Mesopic vision

Mesopic vision, sometimes also called twilight vision, is a combination of photopic and scotopic vision under low-light (but not necessarily dark) conditions. Mesopic levels range approximately from 0.01 to 3.0 cd/m in luminance. Most nighttime outdoor and street lighting conditions are in the mesopic range.

Human eyes respond to certain light levels differently. This is because under high light levels typical during daytime (photopic vision), the eye uses cones to process light. Under very low light levels, corresponding to moonless nights without artificial lighting (scotopic vision), the eye uses rods to process light. At many nighttime levels, a combination of both cones and rods supports vision. Photopic vision facilitates excellent color perception, whereas colors are barely perceptible under scotopic vision. Mesopic vision falls between these two extremes. In most nighttime environments, enough ambient light prevents true scotopic vision.

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