Materiały źródłowe

• #1 Color Vision – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470227/

  Color blindness is a group of eye disorders that affect the perception of color. Many forms of color vision recognition abnormalities are present in the population, with most having a genetic origin (congenital). The most common forms are protanopia and deuteranopia, conditions arising from the loss of function of 1 of the cones, leading to dichromic vision. Protanopia is the loss of L cones (red), resulting in only green-blue vision. Deuteranopia is the loss of M cones (green), resulting in red-blue vision only. Both are X-linked alleles, therefore almost exclusively occurring in males, occurring with a prevalence of 1%. Loss of S cones rarely occurs in 0.01% of males and females. In these cases, 1 of the cones is not expressed, and physically, in its place, 1 of the others is expressed. […] In addition to disorders of proper color recognition, many vision diseases display phototransduction defects affecting many portions of the signal pathway and its regulation. Here, color vision function is lessened, and scotopic (low-light, rod-associated) vision is also lessened.

• #2 Color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Color_blindness

  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. […] 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 deficiencies can be classified as inherited or acquired. […] Inherited or congenital/genetic color vision deficiencies are most commonly caused by mutations of the genes encoding opsin proteins. […] However, several other genes can also lead to less common and/or more severe forms of color blindness. […] Acquired color blindness that is not present at birth may be caused by chronic illness, accidents, medication, chemical exposure or simply normal aging processes.

• #3 Differences in vision due to differences in photoreceptor cells (colorblind people) | Color universal design | artience

  https://www.artiencegroup.com/en/column/cud/color-vision-defects.html

  Mechanism of seeing colors. The photoreceptor cells in the retina of the human eye have rods that sense the brightness of light and cones that sense color information. The cones include „L cones” that sense red and „M cones” that sense green. There are three types of cones: , and „S cones” that sense blue. […] It occurs when the „L-cone” that senses red does not function properly. It accounts for approximately 25% of congenital color blindness. […] It occurs when the „M-cone” that senses the color green does not function properly. It is the most common type, accounting for approximately 75% of congenital color blindness. […] It occurs when the S-cones, which sense blue, do not function properly. The frequency of occurrence is very rare.

• #4 Colour blindness | Genetics, Diagnosis & Symptoms | Britannica

  https://www.britannica.com/science/color-blindness

  colour blindness, inability to distinguish one or more of the three colours red, green, and blue. Most people with colour vision problems have a weak colour-sensing system rather than a frank loss of colour sensation. In the retina (the light-sensitive layer of tissue that lines the back and sides of the eyeball), humans have three types of cones (the visual cells that function in the perception of colour). One type absorbs light best in wavelengths of blue-violet and another in the wavelengths of green. The third type is most sensitive to longer wavelengthsmore sensitive to red. Normal colour vision, when all three cone types are functioning correctly, is known as trichromacy (or trichromatism). […] Hereditary red-green colour blindness occurs mainly in males and Caucasian persons, with about 8 percent of men and 0.5 percent of women of European ancestry inheriting the conditions. Its predominance in males is due to the fact that red-green colour blindness is a sex-linked recessive characteristic, carried on the X chromosome.

• #5 Color Blindness: Types, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/11604-color-blindness

  Color blindness is when you dont see colors in the traditional way because some cones (nerve cells) in your eyes are missing or dont work correctly. Color blindness is usually inherited through a genetic mutation. […] If you have color blindness, some of your cones are missing or don’t work properly. […] This happens when cones (a type of nerve cell in your eye retina) arent working correctly. Cones process light and images as they enter your eye and send signals to your brain that allow you to perceive color. […] For most people, color blindness is inherited. That means its passed down from your biological parents from the mother in the most common red-green forms of color blindness. […] A change (mutation) to your genes causes inherited color blindness. […] The most common form, red-green color blindness, follows an X-linked recessive inheritance pattern. […] Acquired color blindness, which usually develops as blue-yellow color deficiency, has many possible causes.

• #6 Color blindness – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/poor-color-vision/symptoms-causes/syc-20354988

  Color blindness is usually inherited, meaning it’s passed down through families. […] Certain eye diseases and some medicines also can cause color blindness. […] Light, which contains all color wavelengths, enters your eye through the cornea and passes through the lens and transparent, jellylike tissue in your eye (vitreous humor) to wavelength-sensitive cells (cones) at the back of your eye in the macular area of the retina. The cones are sensitive to short (blue), medium (green) or long (red) wavelengths of light. Chemicals in the cones trigger a reaction and send the wavelength information through your optic nerve to your brain. […] If your eyes work as they should, you perceive color. But if your cones don’t work properly, you will be unable to distinguish the colors red, green or blue.

• #7 Color vision deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/color-vision-deficiency/

  Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. […] Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. […] Genetic changes involving the OPN1LW or OPN1MW gene cause red-green color vision defects. 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. Blue-yellow color vision defects result from mutations in the OPN1SW gene. […] Blue cone monochromacy occurs when genetic changes affecting the OPN1LW and OPN1MW genes prevent both L and M cones from functioning normally.

• #8 Color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Color_blindness

  Color blindness is typically an inherited genetic disorder. […] The most common forms of color blindness are associated with the Photopsin genes, but the mapping of the human genome has shown there are many causative mutations that do not directly affect the opsins. […] Mutations capable of causing color blindness originate from at least 19 different chromosomes and 56 different genes. […] By far the most common form of color blindness is congenital redgreen color blindness (Daltonism), which includes protanopia/protanomaly and deuteranopia/deuteranomaly. […] These conditions are mediated by the OPN1LW and OPN1MW genes, respectively, both on the X chromosome. […] Congenital blueyellow color blindness is a much rarer form of color blindness including tritanopia/tritanomaly. […] These conditions are mediated by the OPN1SW gene on Chromosome 7 which encodes the S-opsin protein and follows autosomal dominant inheritance.

• #9 What Causes Color Blindness?

  https://www.brainandlife.org/articles/people-who-are-color-blind-cant-see-the-full-range

  Color blindness describes various forms of an inherited trait that scientists call color vision deficiency, says Jay Neitz, PhD, professor of ophthalmology at the University of Washington in Seattle. […] Color blindness is shorthand for a more complex process involving the eyes and brain, says Bart Leroy, MD, PhD, director of the ophthalmic genetics and retinal degeneration clinics at the Children’s Hospital of Philadelphia. […] The retina uses two types of cells: rods, which are responsible for night vision, and cones, which are responsible for daytime vision, including color vision, he explains. The cones are divided into three types that absorb different wavelengths of light: red, green, and blue. Depending on what type of color vision deficiency a person has, cone cells are either missing or not sufficiently sensitive; the result is that only certain color information is being recognized and sent to the brain, says Dr. Leroy. A person with red-green deficiency doesn’t see those colors as most people do and may also have difficulty distinguishing between certain shades of blue and purple, which is comprised of red and blue.

• #10 Color vision deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/color-vision-deficiency/

  Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. […] Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. […] Genetic changes involving the OPN1LW or OPN1MW gene cause red-green color vision defects. 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. Blue-yellow color vision defects result from mutations in the OPN1SW gene. […] Blue cone monochromacy occurs when genetic changes affecting the OPN1LW and OPN1MW genes prevent both L and M cones from functioning normally.

• #11 Why Men Are More Likely To Be Colorblind | Henry Ford Health – Detroit, MI

  https://www.henryford.com/blog/2024/10/why-men-are-more-likely-to-be-colorblind

  Color vision deficiency (CVD), commonly called colorblindness, is much more common in males than females. Inherited colorblindness affects 1 in 12 men and 1 in 200 women, but many people don’t know why there’s such a significant difference. […] Most cases of CVD are caused by a genetic mutation that affects the cone cells in the eye. The gene that causes CVD is on the X chromosome, and it’s a recessive trait. […] Males only have one X chromosome, so they can’t override the gene variant. Males can get the CVD gene variant from just one parent, says Dr. Sethi. […] Most people with CVD have the inherited type, so they’ve had it since birth. But a different kind of CVD, known as acquired CVD, isn’t caused by genetics and affects people later in life. […] Acquired color vision deficiency can occur if a disease affects your retina or changes how your brain processes colors, says Dr. Sethi.

• #12 Colour blindness | Genetics, Diagnosis & Symptoms | Britannica

  https://www.britannica.com/science/color-blindness

  Blue-yellow colour blindness, by contrast, is an autosomal dominant disorder and therefore is not sex-linked and requires only one copy of the defective gene from either parent to be expressed. Achromatopsia is an autosomal recessive disorder, occurring only when two copies of the defective gene (one from each parent) have been inherited. […] Acquired colour blindness is usually of the blue-yellow type and ranges from mild to severe. Often it is associated with chronic disease, such as macular degeneration, glaucoma, diabetes mellitus, retinitis pigmentosa, or Alzheimer disease. Certain drugs and chemicals can also cause acquired colour blindness.

• #13 Congenital red–green color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_red%E2%80%93green_color_blindness

  Congenital redgreen color blindness is an inherited condition that is the root cause of the majority of cases of color blindness. 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. […] The mechanism of congenital redgreen color blindness relates to the functionality of cone cells, specifically to the expression of photopsins, the photopigments that 'catch’ photons and thereby convert light into chemical signals. A typical human has three distinct photopsins: S-, M- and L-opsins expressed by distinct genes, respectively OPN1SW, OPN1MW or OPN1LW. […] During meiosis, homologous recombination between chromosomes of the same type may occur where they exchange a portion of their genes.

• #14 Congenital red–green color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_red%E2%80%93green_color_blindness

  When unequal recombination happens with breaks between the genes, a gene can be essentially deleted from one of the chromosomes. This gene deletion leads to protanopia or deuteranopia (congenital redgreen dichromacy). […] When unequal recombination happens with breaks in the middle of a gene (e.g. between exons), chimeric genes can be created that contain portions of each of the OPN1LW/OPN1MW genes. […] A chimeric gene contains exons contributed from the typical alleles of each of the OPN1MW and OPN1LW genes. Due to the similarity between the genes, these chimeras are always functional, but experience a spectral tuning, i.e. a change to the spectral sensitivity.

• #15 Congenital red–green color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_red%E2%80%93green_color_blindness

  When unequal recombination happens with breaks between the genes, a gene can be essentially deleted from one of the chromosomes. This gene deletion leads to protanopia or deuteranopia (congenital redgreen dichromacy). […] When unequal recombination happens with breaks in the middle of a gene (e.g. between exons), chimeric genes can be created that contain portions of each of the OPN1LW/OPN1MW genes. […] A chimeric gene contains exons contributed from the typical alleles of each of the OPN1MW and OPN1LW genes. Due to the similarity between the genes, these chimeras are always functional, but experience a spectral tuning, i.e. a change to the spectral sensitivity.

• #16 Pathophysiology and pharmacological study of colour blindness | International Journal of Research in Pharmacology & Pharmacotherapeutics

  https://ijrpp.com/ijrpp/article/view/495

  Color blindness occurs when the person is unable to see colors in a normal way. It is also known as colour deficiency. In Trichromacy, three types of cones are present and working properly. Patient can see all colors on the visible spectrum of light in the traditional way. This is full colour vision. In Anomalous trichromacy. There are three types of cones, but one type isnt as sensitive to light in its wavelength as it should be. As a result, person doesnt see colors in the traditional way, with variations from normal ranging from mild to severe. In Dichromacy, one type of cone is missing. So, only two types of cones (usually S cones along with either L cones or M cones) are present. In Monochromacy: Person has only one type of cone or no cone function at all, so very limited or no ability to see color. There are four main subtypes: a.Protanopia: In this condition, in the person L cones are missing. So, person cant perceive red light. Mostly see colors as shades of blue or gold. b.Deuteranopia: In this condition, in the person M cones are missing. So, person cant perceive green light. Mostly see blues and golds. c.Protanomaly: In this condition, the person has all three cone types, but L cones are less sensitive to red light than they should be. Red may appear as dark gray, and every color that contains red may be less bright. d.Deuteranomaly: In this condition, the person has all three cone types, but M cones are less sensitive to green light than they should be. Mostly see blues, yellows and generally muted colours. The colour blindness can be diagnosed by the Ishihara test, Colour vision test. Colour vision tests and Genetic testing.

• #17 Color Blindness: Symptoms, Causes & Treatments

  https://www.accessibilitychecker.org/blog/color-blindness/

  Color blindness is usually present at birth and occurs when the nerve cells in the retina of the eye dont function correctly. Also known as cones, these nerves are responsible for processing light and images and sending signals to the brain, which is what allows you to determine color. […] Research shows that genetics are the main cause of color blindness. The genes that cause faults in the nerves of the retina are usually inherited from parents because they travel in the X chromosome. […] Color blindness is directly linked to the cones in your eyes, each of which is responsible for processing different colors. […] Trichromacy: All three cones are working as they should, and someone has full-color vision. […] Anomalous trichromacy: Even though all cones are present, there is one that isnt sensitive enough to light. This impacts someones ability to see colors in a traditional way.

• #18 Pathophysiology and pharmacological study of colour blindness | International Journal of Research in Pharmacology & Pharmacotherapeutics

  https://ijrpp.com/ijrpp/article/view/495

  Color blindness occurs when the person is unable to see colors in a normal way. It is also known as colour deficiency. In Trichromacy, three types of cones are present and working properly. Patient can see all colors on the visible spectrum of light in the traditional way. This is full colour vision. In Anomalous trichromacy. There are three types of cones, but one type isnt as sensitive to light in its wavelength as it should be. As a result, person doesnt see colors in the traditional way, with variations from normal ranging from mild to severe. In Dichromacy, one type of cone is missing. So, only two types of cones (usually S cones along with either L cones or M cones) are present. In Monochromacy: Person has only one type of cone or no cone function at all, so very limited or no ability to see color. There are four main subtypes: a.Protanopia: In this condition, in the person L cones are missing. So, person cant perceive red light. Mostly see colors as shades of blue or gold. b.Deuteranopia: In this condition, in the person M cones are missing. So, person cant perceive green light. Mostly see blues and golds. c.Protanomaly: In this condition, the person has all three cone types, but L cones are less sensitive to red light than they should be. Red may appear as dark gray, and every color that contains red may be less bright. d.Deuteranomaly: In this condition, the person has all three cone types, but M cones are less sensitive to green light than they should be. Mostly see blues, yellows and generally muted colours. The colour blindness can be diagnosed by the Ishihara test, Colour vision test. Colour vision tests and Genetic testing.

• #19 Color Blindness: How It Happens and What Causes It

  https://www.webmd.com/eye-health/color-blindness

  It happens when the green cone photopigment doesnt work as it should. […] Your red cone photopigment doesnt work as it should. […] You have no working red cone cells. […] You have no working green cone cells. […] This is when your blue cone photopigments are either missing or dont work correctly. […] You have no blue cone cells. […] It happens when 2 of your 3 cone cell photopigments — red, green, or blue — dont work. […] Also known as achromatopsia, its the most severe form of color blindness. None of your cone cells have photopigments that work.

• #20 Color Vision – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470227/

  Color blindness is a group of eye disorders that affect the perception of color. Many forms of color vision recognition abnormalities are present in the population, with most having a genetic origin (congenital). The most common forms are protanopia and deuteranopia, conditions arising from the loss of function of 1 of the cones, leading to dichromic vision. Protanopia is the loss of L cones (red), resulting in only green-blue vision. Deuteranopia is the loss of M cones (green), resulting in red-blue vision only. Both are X-linked alleles, therefore almost exclusively occurring in males, occurring with a prevalence of 1%. Loss of S cones rarely occurs in 0.01% of males and females. In these cases, 1 of the cones is not expressed, and physically, in its place, 1 of the others is expressed. […] In addition to disorders of proper color recognition, many vision diseases display phototransduction defects affecting many portions of the signal pathway and its regulation. Here, color vision function is lessened, and scotopic (low-light, rod-associated) vision is also lessened.

• #21 Pathophysiology and pharmacological study of colour blindness | International Journal of Research in Pharmacology & Pharmacotherapeutics

  https://ijrpp.com/ijrpp/article/view/495

  Color blindness occurs when the person is unable to see colors in a normal way. It is also known as colour deficiency. In Trichromacy, three types of cones are present and working properly. Patient can see all colors on the visible spectrum of light in the traditional way. This is full colour vision. In Anomalous trichromacy. There are three types of cones, but one type isnt as sensitive to light in its wavelength as it should be. As a result, person doesnt see colors in the traditional way, with variations from normal ranging from mild to severe. In Dichromacy, one type of cone is missing. So, only two types of cones (usually S cones along with either L cones or M cones) are present. In Monochromacy: Person has only one type of cone or no cone function at all, so very limited or no ability to see color. There are four main subtypes: a.Protanopia: In this condition, in the person L cones are missing. So, person cant perceive red light. Mostly see colors as shades of blue or gold. b.Deuteranopia: In this condition, in the person M cones are missing. So, person cant perceive green light. Mostly see blues and golds. c.Protanomaly: In this condition, the person has all three cone types, but L cones are less sensitive to red light than they should be. Red may appear as dark gray, and every color that contains red may be less bright. d.Deuteranomaly: In this condition, the person has all three cone types, but M cones are less sensitive to green light than they should be. Mostly see blues, yellows and generally muted colours. The colour blindness can be diagnosed by the Ishihara test, Colour vision test. Colour vision tests and Genetic testing.

• #22 Color Blindness: Symptoms, Causes & Treatments

  https://www.accessibilitychecker.org/blog/color-blindness/

  Dichromacy: This indicates one of the cones is missing, which means the eye is only working with two types of wavelengths instead of three. Dichromacy makes it difficult to differentiate between saturated colors. […] Monochromacy: Lastly, monochromacy indicates that only one cone is present or none at all. This means someone is able to see limited colors or no color at all. Surroundings will often appear gray. […] When neither the L nor M cones are working correctly, it causes a rare form of color blindness called blue cone monochromacy. […] If all three cones are missing or they simply dont work, it causes rod monochromacy, also known as achromatopsia. Rod monochromacy means someone sees everything as gray and will most likely have other visual impairments.

• #23 ColorADD – Facts and figures about color blindness. Answers to questions about color blindness.

  https://www.coloradd.net/en/about-colorblindness/

  Color blindness is a visual insufficiency that disables the capacity of distinguishing several colors. As a result of hereditary transmission, color blindness drifts from a genetic deficiency associated with the X chromosome. […] The condition of color blindness has a genetic origin related with X chromosome. […] Hermann Von Helmholtz proposes a theory describing the organic mechanism responsible for the color blind state in line with the studies of Thomas Young. The Young-Helmholtz theory, argue that the retina had specialized cells, named Cones, that were responsible for the color perception and the malfunction of these cells would cause color blindness. […] Changes in the protein composition of Cones, implies different color blind states. […] Monochromacy, also known as „total color blindness”, is the lack of ability to distinguish colors (and thus the person views everything as if it were on a black and white television); caused by cone defect or absence.

• #24 Color Vision – EyeWiki

  https://eyewiki.org/Color_Vision

  Color vision is an important part of human visual perception. However, true trichromatism is relatively unique to primates among mammals, and arose by duplication and divergence of the photopigment genes for the M-cones and L-cones on the X-chromsome. […] The visual phototransduction cycle among rods, S-cones, M-cones, and L-cones is similar, with differences in the opsin component responsible for variances in the absorption spectrum. […] Kollners rule, proposed in 1912, refers to apparent effect that retinal and macular pathology tend to cause blue-yellow color deficiencies (similar to tritanomaly), where as optic nerve pathology tends to cause red-green color deficiency (similar to protanomaly or deuteranomaly). […] The following entities may be associated with dyschromatopsia to varying degrees: Optic neuritis, Optic neuropathy (e.g. compressive, ischemic), Central Serous Retinopathy, Cataract, Glaucoma (late finding, subtle), Diabetes (diabetic dyschromatopsia, rare), Dominant optic atrophy with blue dyschromatopsia, Stargardts disease, Medication-induced.

• #25 Achromatopsia – EyeWiki

  https://eyewiki.org/Achromatopsia

  Achromatopsia is a rare, bilateral inherited retinal degeneration affecting all three types of cone photoreceptor cells that results in the absence of color discrimination. […] The most common mutations affect genes that code for or regulate cone cyclic nucleotide-gated (CNG) cation channel subunits, including CNGB3 in 50% of cases and CNGA3 in 25% of cases. […] To date, nearly 100 mutations in CNGA3 and CNGB3 have been linked to achromatopsia in humans. […] The CNG channels are located on photoreceptor outer segment cell membranes and are involved in signal transduction. […] These mutations result in a significant decline in cone function. […] Other implicated genes accounting for a smaller fraction of achromatopsia cases include GNAT2, PDE6C, PDE6H and ATF6. […] Blue cone (S-cone) monochromatism is usually X-linked and it is important to have a family history. In this disease the function of the rods and S cones is normal, but L- and M- cone function is absent.

• #26 A Study on The Mechanism of Achromatopsia | Cyagen

  https://www.cyagen.com/us/en/community/technical-bulletin/rare-disease-achromatopsia-achm.html

  Patients with achromatopsia (ACHM) have abnormal color discrimination on the three color vision axes corresponding to the three cone cells. […] Multiple genes can cause achromatopsia, such as cyclic nucleotide-gated channel 3 (CNGA3), cyclic nucleotide-gated channel 3 (CNGB3), and guanylate-binding protein alpha transducing active peptide 2 (GNAT2). The proteins encoded by these three genes play important roles in cone-mediated phototransduction pathways. […] In addition to this, mutations in phosphodiesterase 6C (PDE6C) and phosphodiesterase 6H (PDE6H) can also lead to achromatopsia. […] Most of the mutations causing achromatopsia either disrupt G-protein signaling (GNAT2) or cGMP gated cation channel function (CNGB3 and CNGA3), while mutations in cone phosphodiesterase (PDE6C and PDE6H) are involved to a lesser degree.

• #27 A Study on The Mechanism of Achromatopsia | Cyagen

  https://www.cyagen.com/us/en/community/technical-bulletin/rare-disease-achromatopsia-achm.html

  Patients with achromatopsia (ACHM) have abnormal color discrimination on the three color vision axes corresponding to the three cone cells. […] Multiple genes can cause achromatopsia, such as cyclic nucleotide-gated channel 3 (CNGA3), cyclic nucleotide-gated channel 3 (CNGB3), and guanylate-binding protein alpha transducing active peptide 2 (GNAT2). The proteins encoded by these three genes play important roles in cone-mediated phototransduction pathways. […] In addition to this, mutations in phosphodiesterase 6C (PDE6C) and phosphodiesterase 6H (PDE6H) can also lead to achromatopsia. […] Most of the mutations causing achromatopsia either disrupt G-protein signaling (GNAT2) or cGMP gated cation channel function (CNGB3 and CNGA3), while mutations in cone phosphodiesterase (PDE6C and PDE6H) are involved to a lesser degree.

• #28 New Color Blindness Cause Identified | Columbia University Irving Medical Center

  https://www.cuimc.columbia.edu/news/new-color-blindness-cause-identified

  A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an international research team, including scientists from Columbia University Medical Center (CUMC). […] The researchers found that mutations to a gene called ATF6, a key regulator of the unfolded protein response, can lead to achromatopsia, a hereditary visual disorder characterized by color blindness, decreased vision, light sensitivity, and uncontrolled eye movement in children. […] The unfolded protein response is a mechanism cells use to prevent the dangerous accumulation of unfolded or mis-folded proteins. […] Based on mouse studies, the researchers suspect that the cone cells of people with achromatopsia are not permanently damaged and could be revived by enhancing the pathway that regulates the unfolded protein response.

• #29 New Color Blindness Cause Identified | Columbia University Irving Medical Center

  https://www.cuimc.columbia.edu/news/new-color-blindness-cause-identified

  Five genes had previously been linked to achromatopsia; however, they accounted for only about half of all cases, said Dr. Tsang. […] Using next-generation gene sequencing on a small group of patients, we found that mutations in a sixth gene ATF6 can independently lead to the disease. […] Mutations in ATF6 (activating transcription factor 6A) have been implicated in other conditions, including diabetes and Alzheimer disease models, but this is the first time that they have been directly linked to human disease. […] By analyzing skin cells from achromatopsia patients and their unaffected family members, the researchers confirmed that the ATF6 mutations were interfering with the signaling pathway that regulates the unfolded protein response. […] The researchers estimate that ATF6 mutations account for only about one percent of cases of the disease.

• #30 Causes of Colour Blindness – Colour Blind Awareness

  https://www.colourblindawareness.org/colour-blindness/causes-of-colour-blindness/

  Colour blindness is usually a genetic (hereditary) condition (you are born with it). […] The exact physical causes of colour blindness are still being researched, but colour blindness is usually caused by changes to the genetic code sequencing which result in faulty electrical signals being sent to the brain. […] People with normal colour vision have all three types of cone cells/electrical pathways working correctly, but colour blindness occurs when one or more of the cone cell types have abnormal sequencing. […] Most people with colour blindness cant distinguish certain shades of red and green and colours which contain red and green. […] In people with severe forms of red, green or blue CVD one set of cone cell types does not exist at all.

• #31 Color Blindness: Types, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/11604-color-blindness

  Color blindness is when you dont see colors in the traditional way because some cones (nerve cells) in your eyes are missing or dont work correctly. Color blindness is usually inherited through a genetic mutation. […] If you have color blindness, some of your cones are missing or don’t work properly. […] This happens when cones (a type of nerve cell in your eye retina) arent working correctly. Cones process light and images as they enter your eye and send signals to your brain that allow you to perceive color. […] For most people, color blindness is inherited. That means its passed down from your biological parents from the mother in the most common red-green forms of color blindness. […] A change (mutation) to your genes causes inherited color blindness. […] The most common form, red-green color blindness, follows an X-linked recessive inheritance pattern. […] Acquired color blindness, which usually develops as blue-yellow color deficiency, has many possible causes.

• #32 Color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Color_blindness

  Several inherited diseases are known to cause color blindness, including achromatopsia, cone dystrophy, Leber’s congenital amaurosis and retinitis pigmentosa. […] Color blindness may also present itself as a symptom of degenerative diseases of the eye, such as cataract and age-related macular degeneration, and as part of the retinal damage caused by diabetes. […] Color blindness may be a side effect of prescription drug use. […] Exposure to chemicals such as styrene or organic solvents can also lead to color vision defects. […] The opponent channels can also be affected by the prevalence of certain cones in the retinal mosaic.

• #33 Color Vision – EyeWiki

  https://eyewiki.org/Color_Vision

  Color vision is an important part of human visual perception. However, true trichromatism is relatively unique to primates among mammals, and arose by duplication and divergence of the photopigment genes for the M-cones and L-cones on the X-chromsome. […] The visual phototransduction cycle among rods, S-cones, M-cones, and L-cones is similar, with differences in the opsin component responsible for variances in the absorption spectrum. […] Kollners rule, proposed in 1912, refers to apparent effect that retinal and macular pathology tend to cause blue-yellow color deficiencies (similar to tritanomaly), where as optic nerve pathology tends to cause red-green color deficiency (similar to protanomaly or deuteranomaly). […] The following entities may be associated with dyschromatopsia to varying degrees: Optic neuritis, Optic neuropathy (e.g. compressive, ischemic), Central Serous Retinopathy, Cataract, Glaucoma (late finding, subtle), Diabetes (diabetic dyschromatopsia, rare), Dominant optic atrophy with blue dyschromatopsia, Stargardts disease, Medication-induced.

• #34 What Causes Color Blindness: Prevalence, Symptoms, Types & More

  https://www.healthline.com/health/color-blindness

  Diseases that damage the optic nerve or the retina of the eye can cause acquired color blindness. […] With glaucoma, the internal pressure of the eye, or the intraocular pressure, is too high. The pressure damages the optic nerve, which carries signals from the eye to the brain so that you can see. As a result, your ability to distinguish colors may diminish. […] Macular degeneration and diabetic retinopathy cause damage to the retina, which is where the cones are located. This can cause color blindness. […] If you have a cataract, the lens of your eye gradually changes from transparent to opaque. Your color vision may dim as a result. […] Certain medications can cause changes in color vision. […] Color blindness may also be due to other factors. One factor is aging. Vision loss and color deficiency can happen gradually with age. Additionally, toxic chemicals such as styrene, which is present in some plastics, are linked to the loss of ability to see color.

• #35 Color Blindness | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/c/color-blindness.html

  In rare cases, color blindness can be caused by a health condition instead of being present from birth. These include: Optic neuritis, Macular degeneration, Glaucoma, Diabetic retinopathy, Multiple sclerosis, Parkinson disease, Alzheimer disease, Other diseases that affect the optic nerve or retina, Diseases that affect the lens of the eye, Toxic effects from medicines, Stroke, especially in the occipital lobe, Chronic alcoholism, Leukemia, Sickle cell anemia.

• #36 Color Blindness | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/c/color-blindness.html

  In rare cases, color blindness can be caused by a health condition instead of being present from birth. These include: Optic neuritis, Macular degeneration, Glaucoma, Diabetic retinopathy, Multiple sclerosis, Parkinson disease, Alzheimer disease, Other diseases that affect the optic nerve or retina, Diseases that affect the lens of the eye, Toxic effects from medicines, Stroke, especially in the occipital lobe, Chronic alcoholism, Leukemia, Sickle cell anemia.

• #37 Color Blindness | Saint Luke’s Health System

  https://www.saintlukeskc.org/health-library/color-blindness

  In rare cases, color blindness can be caused by a health condition instead of being present from birth. These include: Optic neuritis, Macular degeneration, Glaucoma, Diabetic retinopathy, Multiple sclerosis, Parkinson disease, Alzheimer disease, Other diseases that affect the optic nerve or retina, Diseases that affect the lens of the eye, Toxic effects from medicines, Stroke, especially in the occipital lobe, Chronic alcoholism, Leukemia, Sickle cell anemia. […] Currently there is no cure for color blindness that is present from birth. If you have this condition, you may benefit from special color glasses or tinted contact lenses. They may help you tell the difference between some shades. But they don’t give you normal color vision. […] If you have acquired color blindness, your healthcare provider will try to address your underlying problem. This can help make the color blindness less severe. Or it can improve the symptoms. In other cases, treatment may help stop the symptoms from getting worse.

• #38 Color Vision – EyeWiki

  https://eyewiki.org/Color_Vision

  Medication side effects which cause changes in color vision include sildenafil, digoxin, and medications which are toxic to the optic nerve. […] The differential diagnosis for acquired color vision abnormalities (dyschromatopsia) is broad. […] There is no treatment for congenital color blindness. Typically, color blindness does not cause significant impairment; however, special contact lenses and glasses can be worn to minimize color differentiation deficits.

• #39 Color Blindness Can Be Inherited or Acquired | Color Vision Correction

  https://colormax.org/2020/01/color-blindness-can-be-inherited-or-acquired/

  Certain medications have been found to have definite ocular side effects and may pose a risk to the eye or visual system. […] While there is currently no cure for inherited color blindness, those individuals with an acquired color vision deficiency may have their vision return to normal once the cause has been established and treated.

• #40 Color blindness: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001002.htm

  Color blindness occurs when there is a problem with the pigments in certain nerve cells of the eye that sense color. These cells are called cones. They are found in the light-sensitive layer of tissue at the back of the eye, called the retina. […] Most color blindness is due to a genetic problem. About 1 in 10 men have some form of color blindness. Very few women are color blind. […] The drug hydroxychloroquine (Plaquenil) can also cause color blindness. It is used to treat rheumatoid arthritis and other conditions.

• #41 What to Know About Color Blindness – The Eye Institute

  https://youreyeinstitute.com/what-to-know-about-color-blindness/

  Color blindness is usually inherited, although some conditions and diseases can also affect the way you see colors. […] When you are color blind, cones, special photoreceptor cells in your retina, do not work as well as they should. […] The condition is passed on to you from your mother, who carries a mutated gene on one of her X chromosomes. […] Blue-yellow color blindness, the inability to distinguish between yellow and blue, is less common and equally likely in males and females because the defect is not located on the X chromosome. […] Although most cases of color blindness are inherited, some people develop an acquired form of the disease. […] Risk factors for this type of color blindness include: […] Trauma to your brain or retina can cause color blindness. […] Some medications can cause color blindness, including hydroxychloroquine, a prescription drug used to treat rheumatoid arthritis.

• #42 What Causes Color Blindness: Prevalence, Symptoms, Types & More

  https://www.healthline.com/health/color-blindness

  Diseases that damage the optic nerve or the retina of the eye can cause acquired color blindness. […] With glaucoma, the internal pressure of the eye, or the intraocular pressure, is too high. The pressure damages the optic nerve, which carries signals from the eye to the brain so that you can see. As a result, your ability to distinguish colors may diminish. […] Macular degeneration and diabetic retinopathy cause damage to the retina, which is where the cones are located. This can cause color blindness. […] If you have a cataract, the lens of your eye gradually changes from transparent to opaque. Your color vision may dim as a result. […] Certain medications can cause changes in color vision. […] Color blindness may also be due to other factors. One factor is aging. Vision loss and color deficiency can happen gradually with age. Additionally, toxic chemicals such as styrene, which is present in some plastics, are linked to the loss of ability to see color.

• #43 Color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Color_blindness

  Several inherited diseases are known to cause color blindness, including achromatopsia, cone dystrophy, Leber’s congenital amaurosis and retinitis pigmentosa. […] Color blindness may also present itself as a symptom of degenerative diseases of the eye, such as cataract and age-related macular degeneration, and as part of the retinal damage caused by diabetes. […] Color blindness may be a side effect of prescription drug use. […] Exposure to chemicals such as styrene or organic solvents can also lead to color vision defects. […] The opponent channels can also be affected by the prevalence of certain cones in the retinal mosaic.

• #44 About Colour Blindness – Colour Blind Awareness

  https://www.colourblindawareness.org/colour-blindness/

  There are different causes of colour blindness. For most colour blind people their condition is genetic, usually inherited from their mother, although some people become colour blind as a result of other diseases such as diabetes and multiple sclerosis or it can be acquired due to ageing or from taking drugs and medications. […] Problems can arise across the entire colour spectrum potentially affecting perception of all reds, greens, oranges, browns, purples, pinks and greys. Even black can be confused as dark red, dark green or dark blue/purple. […] Statistically speaking most people with a moderate form of red/green colour blindness will only be able to identify accurately 5 or so coloured pencils from a standard box of 24 pencil crayons (although they may correctly guess more using their sub-conscious coping strategies).

• #45 Understanding color blindness – DrZwillinger

  https://www.ophtalmo-zwillinger.com/en/understanding-color-blindness/

  It is possible that a person is affected by several color blindnesses, that is to say 46 possibilities, all in different degrees. There are as many ways of seeing colors as there are people who are color blind. […] Even if this anomaly cannot be prevented, its detection is very simple and is often done at the first medical visit in school. […] At present, no treatment can restore normal color vision. But certain solutions are being implemented: professionals propose glasses allowing to compensate for the anomalies of the perception of colors; certain video games have already integrated filters into their settings to facilitate the immersion of color-blind players. […] Despite the handicap that this can cause, the color-blind person has their own system of references to see a color. The missing shades are replaced by different shades of gray.

• #46 What Causes Color Blindness?

  https://www.brainandlife.org/articles/people-who-are-color-blind-cant-see-the-full-range

  Color vision deficiency is X-linked, meaning genetic mutations associated with the condition are passed along on the X chromosome, says Dr. Leroy. The condition is more likely to affect males, who have an X and a Y chromosome. Females have two X chromosomes, which allows any genetic mutations related to color blindness on one X chromosome to be overridden by normal genes on the other. […] Before the 1980s, the „biological basis of color blindness was not understood at all,” says Dr. Neitz, who runs a research lab focused on color blindness with his wife, Maureen Neitz, PhD. The couple is developing gene therapy and genetic testing for color blindness. […] „Color vision is all about how the information that comes from the three different kinds of cones in the eye is processed by the brain,” he says. […] But the monkey experiment suggests that the brain can adapt to new color information. Dr. Neitz says tests to evaluate the monkeys’ responses to color cues following gene therapy indicated that they could see a full range of colors.

• #47 Color vision deficiency | AOA

  https://www.aoa.org/healthy-eyes/eye-and-vision-conditions/color-vision-deficiency

  Color deficiency can be diagnosed through a comprehensive eye examination. […] However, additional testing may be needed to determine the exact nature and degree of color deficiency. […] There is no cure for inherited color deficiency. […] But if the cause is an illness or eye injury, treating these conditions may improve color vision. […] Although in the very early stages, several gene therapies that have restored color vision in animal models are being developed for humans.

• #48 A Study on The Mechanism of Achromatopsia | Cyagen

  https://www.cyagen.com/us/en/community/technical-bulletin/rare-disease-achromatopsia-achm.html

  Some studies have reported Cpfl5 mice injected with virus-mediated gene therapy into the subretinal cavity when they were 3 weeks old, the subsequent electroretinogram detected the subject could respond to the current. […] The researchers used AAV8 to package the human-derived functional CNGA3 gene and performed subretinal injection to make the cone cells express the functional CNGA3 gene to compensate for the abnormal cone cell function caused by the loss of CNGA3 protein.

• #49 Color Therapy | Harvard Medicine Magazine

  https://magazine.hms.harvard.edu/articles/color-therapy

  About ten percent of men are to some degree red-green color-blind. Roughly 1.5 percent of men cannot distinguish reds from greens because they lack either the red- or green-sensitive cone pigments, but for the most part, color blindness results when one of the three types of visual pigments doesnt work normally. […] People who are color-blind, however, may one day have an opportunity to experience the full spectrum of color vision, according to Jason Comander 06, an instructor in ophthalmology at Massachusetts Eye and Ear. Researchers at the University of Washington have developed gene therapy that restores the gene that codes for the missing or faulty light-sensitive pigment, allowing cone cells to detect colors that they could not detect previously. […] It isnt clear yet whether the therapy works beyond restoring red sensitivity to the cone cells. Does it, for example, also affect the complex wiring inside the retina and the brain that contributes to the processing of color vision within the visual cortex?

• #50 Color Therapy | Harvard Medicine Magazine

  https://magazine.hms.harvard.edu/articles/color-therapy

  Gene therapy is starting to work and is changing this field, says Comander. Theres a real need for new therapies for the people I see who are losing most or all of their vision due to inherited retinal diseases. […] If modern gene therapy does catch on, treatments for color blindness may eventually be approved. That, in turn, could open the door to color vision enhancement.

• #51 What Is Color Blindness? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/color-blindness/guide/

  Color blindness is caused by a total or partial lack of cones in the retina. Cones are what detect the colors red, green, and blue. […] The most common types of color blindness are hereditary, passed from parent to child. Many people are born with it, which makes it a congenital condition. […] For inherited forms of color blindness, not due to an underlying condition, there are currently no medical treatments. […] Researchers are experimenting with gene therapy to treat color blindness. In a small study from 2020, nine people with achromatopsia (total color blindness) were able to see some color after being treated with a gene therapy specifically, a genetically engineered virus designed to correct a defect in a gene called CNGA3. […] Gene therapy uses viruses because of how easily they can enter cells (the viruses are altered so they dont cause infection).

• #52 EnChroma Color Blind Glasses: How Do They Work?

  https://enchroma.com/pages/how-enchroma-glasses-work

  Most types of color blindness occur when there is an excessive overlap of the green and red color cones in the eye, causing distinct hues to become indistinguishable. As a result, those with color blindness only see a fraction of the millions of hues and shades of colors seen by those with normal color vision. […] EnChroma’s color blind lens technology selectively filters light to increase contrast between the red and green color signals to account for the overlap and alleviate symptoms of red-green color blindness for a richer, more colorful experience of the world. Approximately 80% of those with red-green color blindness will see some improvement in their ability to distinguish colors. […] EnChroma develops optical lens technology that selectively filters out wavelengths of light at the point where this confusion or excessive overlap of color sensitivity occurs. EnChroma lenses alter the signal to the M (Green) and L (Red) photoreceptor cones in such a way that there is a greater color contrast along the so-called confusion line for that individual.

• #53 Explaining colour vision with the decoding model

  https://researchfeatures.com/explaining-colour-vision-decoding-model/

  Despite technological developments, the colour vision mechanism of converting physical colours into psychological colours remains not clear enough. […] Lu uses his decoding model of colour vision to explain both colour evolution and colour blindness. […] The decoding model can explain colour evolution, colour blindness, and the opponent-process more intuitively than other zone models. […] The decoding model shows that different kinds of colour blindness can be described by incomplete separations of the three sensitive curves. […] Monochromatism can be explained under the assumption that the blue, green and red sensitivity curves have not yet separated from a single curve. […] Red-green blindness can be explained under the assumption that the R-curve and the G-curve have not yet separated from one curve. […] The decoding model illustrates it by assuming that the B-curve has not yet separated from the G-curve. […] The decoding model can provide more intuitive explanations for colour evolution, colour blindness, and the opponent-process.

• #54 Color blindness – Wikipedia

  https://en.wikipedia.org/wiki/Color_blindness

  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. […] 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 deficiencies can be classified as inherited or acquired. […] Inherited or congenital/genetic color vision deficiencies are most commonly caused by mutations of the genes encoding opsin proteins. […] However, several other genes can also lead to less common and/or more severe forms of color blindness. […] Acquired color blindness that is not present at birth may be caused by chronic illness, accidents, medication, chemical exposure or simply normal aging processes.

• #55 Causes of Colour Blindness – Colour Blind Awareness

  https://www.colourblindawareness.org/colour-blindness/causes-of-colour-blindness/

  Colour blindness is usually a genetic (hereditary) condition (you are born with it). […] The exact physical causes of colour blindness are still being researched, but colour blindness is usually caused by changes to the genetic code sequencing which result in faulty electrical signals being sent to the brain. […] People with normal colour vision have all three types of cone cells/electrical pathways working correctly, but colour blindness occurs when one or more of the cone cell types have abnormal sequencing. […] Most people with colour blindness cant distinguish certain shades of red and green and colours which contain red and green. […] In people with severe forms of red, green or blue CVD one set of cone cell types does not exist at all.

• #56 What is Color Blindness? Reasons Behind Color Vision Deficiency | European Eye Center

  https://europeaneyecenter.com/en/what-is-color-blindness-reasons-behind-color-vision-deficiency/

  Certain eye diseases can significantly impair color vision. Conditions like glaucoma, which damages the optic nerve, may affect color perception alongside peripheral vision. Diabetic retinopathy, a complication of diabetes, can lead to changes in the retina that interfere with color discrimination. Similarly, age-related macular degeneration (AMD) affects the central vision and can alter how colors are seen, particularly in the blue-yellow spectrum. […] Ongoing research aims to explore potential treatments for color blindness, including gene therapy, retinal implants, and advancements in optical devices. While these approaches are still in experimental stages, they offer hope for future solutions.

• #57 Color Vision – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470227/

  One such disease is congenital stationary night blindness. It is a genetic defect resulting in functional cones but dysfunctional rods. Many potential culprits have been identified for this disease, including abnormal rhodopsin, arrestin, rod transducin, rod phosphodiesterase, and rhodopsin kinase. […] Another disease affecting rod function is retinitis pigmentosa, a progressive retina degeneration leading to blindness of genetic origins. […] Currently, there are no FDA-approved treatments for CSNB or RP. However, there is the promise of gene therapy interventions on the horizon. […] Color vision deficiency may limit jobs in certain professions, but the condition is not life-threatening. […] Gene therapy may be available to restore vision in those with hereditary disorders of colored vision deficiency.

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