|
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. Signs and symptoms The five symptoms associated with achromatopsia are: # Color blindness - usually monochromacy # Reduced visual acuity - uncorrectable with lenses # Hemeralopia – with the subject exhibiting photophobia # Nystagmus # Iris operating abnormalities The syndrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ACHM2
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. Signs and symptoms The five symptoms associated with achromatopsia are: # Color blindness - usually monochromacy # Reduced visual acuity - uncorrectable with lenses # Hemeralopia – with the subject exhibiting photophobia # Nystagmus # Iris operating abnormalities The syndrome is typ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Monochromacy
Monochromacy (from Greek ''mono'', meaning "one" and ''chromo'', meaning "color") is the ability of organisms or machines to perceive only light intensity, without respect to spectral composition (color). Organisms with monochromacy are called monochromats. Many mammals, such as cetaceans, the owl monkey and the Australian sea lion (pictured at right) are monochromats. In humans, absence of color vision is one among several other symptoms of severe inherited or acquired diseases, including achromatopsia or blue cone monochromacy, together affecting about 1 in 30,000 people. The affected can distinguish light, dark, and shades of gray but not color. Humans Human vision relies on a duplex retina, comprising two types of photoreceptor cells. Rods are primarily responsible for dim-light scotopic vision and cones are primarily responsible for day-light photopic vision. For all known vertebrates, scotopic vision is monochromatic, since there is typically only one class of rod cell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Monochromacy
Monochromacy (from Greek ''mono'', meaning "one" and ''chromo'', meaning "color") is the ability of organisms or machines to perceive only light intensity, without respect to spectral composition (color). Organisms with monochromacy are called monochromats. Many mammals, such as cetaceans, the owl monkey and the Australian sea lion (pictured at right) are monochromats. In humans, absence of color vision is one among several other symptoms of severe inherited or acquired diseases, including achromatopsia or blue cone monochromacy, together affecting about 1 in 30,000 people. The affected can distinguish light, dark, and shades of gray but not color. Humans Human vision relies on a duplex retina, comprising two types of photoreceptor cells. Rods are primarily responsible for dim-light scotopic vision and cones are primarily responsible for day-light photopic vision. For all known vertebrates, scotopic vision is monochromatic, since there is typically only one class of rod cell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Color Blindness
Color blindness or color vision deficiency (CVD) is the decreased ability to see color or differences in color. It can impair tasks such as selecting ripe fruit, choosing clothing, and reading traffic lights. Color blindness may make some academic activities more difficult. However, issues are generally minor, and the colorblind automatically develop adaptations and coping mechanisms. People with total color blindness (achromatopsia) may also be uncomfortable in bright environments and have decreased visual acuity. The most common cause of color blindness is an 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 disorder called congenital red–green color blindness. Males are more likely to be color blind than females, because the genes responsible for the most common forms of color blindness are on the X chromosome. Non-color-blind fem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Color Blindness
Color blindness or color vision deficiency (CVD) is the decreased ability to see color or differences in color. It can impair tasks such as selecting ripe fruit, choosing clothing, and reading traffic lights. Color blindness may make some academic activities more difficult. However, issues are generally minor, and the colorblind automatically develop adaptations and coping mechanisms. People with total color blindness (achromatopsia) may also be uncomfortable in bright environments and have decreased visual acuity. The most common cause of color blindness is an 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 disorder called congenital red–green color blindness. Males are more likely to be color blind than females, because the genes responsible for the most common forms of color blindness are on the X chromosome. Non-color-blind fem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebral Achromatopsia
Cerebral achromatopsia is a type of color-blindness caused by damage to the cerebral cortex of the brain, rather than abnormalities in the cells of the eye's retina. It is often confused with congenital achromatopsia but underlying physiological deficits of the disorders are completely distinct. A similar, but distinct, deficit called color agnosia exists in which a person has intact color perception (as measured by a matching task) but has deficits in color recognition, such as knowing which color they are looking at. Signs and symptoms Patients with cerebral achromatopsia deny having any experience of color when asked and fail standard clinical assessments like the Farnsworth-Munsell 100-hue test (a test of color ordering with no naming requirements). Patients may often not notice their loss of color vision and merely describe the world they see as being "drab". Most describe seeing the world in "shades of gray". This observation notes a key difference between cerebral and cong ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PDE6C
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' is an enzyme that in humans is encoded by the ''PDE6C'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... References Further reading * * * * * * * * * {{refend External links GeneReviews/NIH/NCBI/UW entry on Achromatopsia OMIM entries on Achromatopsia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroretinography
Electroretinography measures the electrical responses of various cell types in the retina, including the photoreceptors ( rods and cones), inner retinal cells ( bipolar and amacrine cells), and the ganglion cells. Electrodes are placed on the surface of the cornea (DTL silver/nylon fiber string or ERG jet) or on the skin beneath the eye (sensor strips) to measure retinal responses. Retinal pigment epithelium (RPE) responses are measured with an EOG test with skin-contact electrodes placed near the canthi. During a recording, the patient's eyes are exposed to standardized stimuli and the resulting signal is displayed showing the time course of the signal's amplitude (voltage). Signals are very small, and typically are measured in microvolts or nanovolts. The ERG is composed of electrical potentials contributed by different cell types within the retina, and the stimulus conditions (flash or pattern stimulus, whether a background light is present, and the colors of the stimul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cone Cell
Cone cells, or cones, are photoreceptor cells in the retinas of vertebrate eyes including the human eye. They respond differently to light of different wavelengths, and the combination of their responses is responsible for color vision. Cones function best in relatively bright light, called the photopic region, as opposed to rod cells, which work better in dim light, or the scotopic region. Cone cells are densely packed in the fovea centralis, a 0.3 mm diameter rod-free area with very thin, densely packed cones which quickly reduce in number towards the periphery of the retina. Conversely, they are absent from the optic disc, contributing to the blind spot. There are about six to seven million cones in a human eye (vs ~92 million rods), with the highest concentration being towards the macula. 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Photophobia
Photophobia is a medical symptom of abnormal intolerance to visual perception of light. As a medical symptom photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes, though the term is sometimes additionally applied to abnormal or irrational fear of light such as heliophobia. The term ''photophobia'' comes from the Greek φῶς (''phōs''), meaning "light", and φόβος (''phóbos''), meaning "fear". Causes Patients may develop photophobia as a result of several different medical conditions, related to the eye, the nervous system, genetic, or other causes. Photophobia may manifest itself in an increased response to light starting at any step in the visual system, such as: *Too much light entering the eye. Too much light can enter the eye if it is damaged, such as with corneal abrasion and retinal damage, or if its pupil(s) is unable to normally constrict ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Photophobia
Photophobia is a medical symptom of abnormal intolerance to visual perception of light. As a medical symptom photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes, though the term is sometimes additionally applied to abnormal or irrational fear of light such as heliophobia. The term ''photophobia'' comes from the Greek φῶς (''phōs''), meaning "light", and φόβος (''phóbos''), meaning "fear". Causes Patients may develop photophobia as a result of several different medical conditions, related to the eye, the nervous system, genetic, or other causes. Photophobia may manifest itself in an increased response to light starting at any step in the visual system, such as: *Too much light entering the eye. Too much light can enter the eye if it is damaged, such as with corneal abrasion and retinal damage, or if its pupil(s) is unable to normally constrict ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroretinography
Electroretinography measures the electrical responses of various cell types in the retina, including the photoreceptors ( rods and cones), inner retinal cells ( bipolar and amacrine cells), and the ganglion cells. Electrodes are placed on the surface of the cornea (DTL silver/nylon fiber string or ERG jet) or on the skin beneath the eye (sensor strips) to measure retinal responses. Retinal pigment epithelium (RPE) responses are measured with an EOG test with skin-contact electrodes placed near the canthi. During a recording, the patient's eyes are exposed to standardized stimuli and the resulting signal is displayed showing the time course of the signal's amplitude (voltage). Signals are very small, and typically are measured in microvolts or nanovolts. The ERG is composed of electrical potentials contributed by different cell types within the retina, and the stimulus conditions (flash or pattern stimulus, whether a background light is present, and the colors of the stimul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
