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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 blindness, color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromacy, monochromatic color blindness, poor visual acuity, and hemeralopia, 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 # Pathologic nystagm ... [...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] |
Fundus (eye)
The fundus of the eye is the interior surface of the eye opposite the lens and includes the retina, optic disc, macula, fovea, and posterior pole.Cassin, B. and Solomon, S. ''Dictionary of Eye Terminology''. Gainesville, Florida: Triad Publishing Company, 1990. The fundus can be examined by ophthalmoscopy and/or fundus photography. Variation The color of the fundus varies both between and within species. In one study of primates the retina is blue, green, yellow, orange, and red; only the human fundus (from a lightly pigmented blond person) is red. The major differences noted among the "higher" primate species were size and regularity of the border of macular area, size and shape of the optic disc, apparent 'texturing' of retina, and pigmentation of retina. Clinical significance Medical signs that can be detected from observation of eye fundus (generally by funduscopy) include hemorrhages, exudates, cotton wool spots, blood vessel abnormalities ( tortuosity, puls ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PDEH
The enzyme phorbol-diester hydrolase (EC 3.1.1.51) catalyzes the reaction :phorbol 12,13-dibutanoate + H2O \rightleftharpoons phorbol 13-butanoate + butanoate This enzyme belongs to the family of hydrolases, specifically those acting on carboxylic ester bonds. The systematic name A systematic name is a name given in a systematic way to one unique group, organism, object or chemical substance, out of a specific population or collection. Systematic names are usually part of a nomenclature. A semisystematic name or semitrivi ... is 12,13-diacylphorbate 12-acylhydrolase. Other names in common use include diacylphorbate 12-hydrolase, diacylphorbate 12-hydrolase, phorbol-12,13-diester 12-ester hydrolase, and PDEH. References * EC 3.1.1 Enzymes of unknown structure {{3.1-enzyme-stub ... [...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 has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... 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] |
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] |
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] |
Photoreceptor Cell
A photoreceptor cell is a specialized type of neuroepithelial cell found in the retina that is capable of visual phototransduction. The great biological importance of photoreceptors is that they convert light (visible electromagnetic radiation) into signals that can stimulate biological processes. To be more specific, photoreceptor proteins in the cell absorb photons, triggering a change in the cell's membrane potential. There are currently three known types of photoreceptor cells in mammalian eyes: rod cell, rods, cone cell, cones, and intrinsically photosensitive retinal ganglion cells. The two classic photoreceptor cells are rods and cones, each contributing information used by the visual system to form an image of the environment, Visual perception, sight. Rods primarily mediate scotopic vision (dim conditions) whereas cones primarily mediate photopic vision (bright conditions), but the processes in each that supports phototransduction is similar. The intrinsically photosen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclic Nucleotide-gated Ion Channel
Cycle, cycles, or cyclic may refer to: Anthropology and social sciences * Cyclic history, a theory of history * Cyclical theory, a theory of American political history associated with Arthur Schlesinger, Sr. * Social cycle, various cycles in social sciences ** Business cycle, the downward and upward movement of gross domestic product (GDP) around its ostensible, long-term growth trend Arts, entertainment, and media Films * ''Cycle'' (2008 film), a Malayalam film * ''Cycle'' (2017 film), a Marathi film Literature * ''Cycle'' (magazine), an American motorcycling enthusiast magazine * Literary cycle, a group of stories focused on common figures Music Musical terminology * Cycle (music), a set of musical pieces that belong together ** Cyclic form, a technique of construction involving multiple sections or movements ** Interval cycle, a collection of pitch classes generated from a sequence of the same interval class ** Song cycle, individually complete songs desi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Locus (genetics)
In genetics, a locus (: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of Human genome#Coding sequences (protein-coding genes), protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygote, homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygote, heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Photopic Vision
Photopic vision is the vision of the eye under well-lit conditions (luminance levels from 10 to 108 cd/m2). In humans and many other animals, photopic vision allows color perception, mediated by cone cells, and a significantly higher visual acuity and temporal resolution than available with scotopic vision. The human eye uses three types of cones to sense light in three bands of color. The biological pigments of the cones have maximum absorption values at wavelengths of about 420 nm (blue), 534 nm (bluish-green), and 564 nm (yellowish-green). The color of the pure signal of the cones could be described as violet, blue-green, and scarlet red, respectively, but, in their wavelengths of maximum absorption other cones are activated as well. The sensitivity ranges of the conecells overlap to provide vision throughout the visible spectrum. The maximum efficacy is 683 lm/W at a wavelength of 555 nm (green). By definition, light at a frequency of hertz ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
