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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 syndrome ... [...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 the 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 XY karyotypes. Cause Cone cells are one kind of photoreceptor cell in the retina that are responsible for the photopic visual system and mediate color vision. The cones are categorized according to their spectral sensitivity: * LWS (long wave sensitive) cones are most sensitive to red light. * MWS (middle wave sensitive) cones are most sensitive to green light. * SWS (short wave sensitive) cones are most sensitive to blue light. MWS and LWS cones are most responsible for visual acuity as they are concentrated in the fovea centralis region of the retina, which constitutes the very center of the visual field. Blue cone monochromacy is a severe condition in which the c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Color Blindness
Color blindness, color vision deficiency (CVD) or color deficiency is the decreased ability to color vision, see color or differences in color. The severity of color blindness ranges from mostly unnoticeable to full absence of color perception. Color blindness is usually a Sex linkage, sex-linked Heredity, 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 dam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Monochromacy
Monochromacy (from Greek ''mono'', meaning "one" and ''chromo'', meaning "color") is the ability of organisms to perceive only light intensity without respect to spectral composition. Organisms with monochromacy lack color vision and can only see in shades of grey ranging from black to white. Organisms with monochromacy are called monochromats. Many mammals, such as cetaceans, the owl monkey and the Australian sea lion are monochromats. In humans, monochromacy 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. 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. However, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemeralopia
Hemeralopia or day blindness is the inability to see clearly in bright light and is the exact opposite of nyctalopia (night blindness), the inability to see clearly in low light. It is also called heliophobia. It can be described as insufficient adaptation to bright light. In hemeralopia, daytime vision gets worse, characterised by photoaversion (dislike/avoidance of light) rather than photophobia (eye discomfort/pain in light), which is typical of inflammations of the eye. Nighttime vision largely remains unchanged due to the use of rods as opposed to cones (during the day), which are affected by hemeralopia and in turn degrade the daytime optical response. Hence, many patients feel they see better at dusk than in daytime. The word ''hemeralopia'' comes from the Greek ''ημέρα'' hemera, "day", and ''αλαός'' alaos, "blindness". Hemera was the Greek goddess of day, and Nyx was the goddess of night. ''Hemeralopia'' has been used to describe night blindness rather than ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transducin
Transducin (Gt) is a protein naturally expressed in vertebrate retina rods and cones and it is very important in vertebrate phototransduction. It is a type of heterotrimeric G-protein with different α subunits in rod and cone photoreceptors. Light leads to conformational changes in the G protein–coupled receptor rhodopsin, which in turn leads to the activation of transducin. Transducin activates phosphodiesterase, which results in the breakdown of cyclic guanosine monophosphate (cGMP). The intensity of the flash response is directly proportional to the number of transducin activated. Function in phototransduction Transducin is activated by metarhodopsin II, a conformational change in rhodopsin caused by the absorption of a photon by the rhodopsin moiety retinal. The light causes isomerization of retinal from 11-''cis'' to all-''trans''. Isomerization causes a change in the opsin to become metarhodopsin II. When metarhodopsin activates transducin, the guanosine diphospha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phosphodiesterase
A phosphodiesterase (PDE) is an enzyme that breaks a phosphodiester bond. Usually, ''phosphodiesterase'' refers to cyclic nucleotide phosphodiesterases, which have great clinical significance and are described below. However, there are many other families of phosphodiesterases, including phospholipases C and D, autotaxin, sphingomyelin phosphodiesterase, DNases, RNases, and restriction endonucleases (which all break the phosphodiester backbone of DNA or RNA), as well as numerous less-well-characterized small-molecule phosphodiesterases. The cyclic nucleotide phosphodiesterases comprise a group of enzymes that degrade the phosphodiester bond in the second messenger molecules cAMP and cGMP. They regulate the localization, duration, and amplitude of cyclic nucleotide signaling within subcellular domains. PDEs are therefore important regulators of signal transduction mediated by these second messenger molecules. History These multiple forms (isoforms or subtypes) of phosp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
