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CSNB
Congenital stationary night blindness (CSNB) is a rare non-progressive retinal disorder. People with CSNB often have difficulty adapting to low light situations due to impaired photoreceptor transmission. These patients may also have reduced visual acuity, myopia, nystagmus, and strabismus. CSNB has two forms -- complete, also known as type-1 (CSNB1), and incomplete, also known as type-2 (CSNB2), which are distinguished by the involvement of different retinal pathways. In CSNB1, downstream neurons called bipolar cells are unable to detect neurotransmission from photoreceptor cells. CSNB1 can be caused by mutations in various genes involved in neurotransmitter detection, including ''NYX''. In CSNB2, the photoreceptors themselves have impaired neurotransmission function; this is caused primarily by mutations in the gene ''CACNA1F'', which encodes a voltage-gated calcium channel important for neurotransmitter release. CSNB has been identified in horses and dogs as the result of mutat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leopard Complex
The leopard complex is a group of genetically related coat patterns in horses. These patterns range from progressive increases in interspersed white hair similar to graying or roan to distinctive, Dalmatian-like leopard spots on a white coat. Secondary characteristics associated with the leopard complex include a white sclera around the eye, striped hooves and mottled skin. The leopard complex gene is also linked to abnormalities in the eyes and vision. These patterns are most closely identified with the Appaloosa and Knabstrupper breeds, though its presence in breeds from Asia to western Europe has indicated that it is due to a very ancient mutation. Leopard complex patterns Coat patterns in the leopard complex range from being hardly distinguishable from an unaffected coat, to nearly pure white. Unlike most other spotting patterns, the spotting and especially the white regions associated with the leopard complex tend to be symmetrical and originate over the hips. Furthermo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NYX (gene)
Nyctalopin is a protein located on the surface of Retina bipolar cell, photoreceptor-to-ON bipolar cell synapse in the retina. It is composed of 481 amino acids. and is encoded in human by the ''NYX'' gene. This gene is found on the X chromosome, chromosome X and has two exons. This protein is a leucine-rich proteoglycan which is gene expression, expressed in the eye, spleen and brain in mice. Mutations in this gene cause congenital stationary night blindness in humans (CSNB). which is a stable retinal disorder. The consequence of this mutation results in an abnormal night vision. Nyctalopin is critical due to the fact that it generates a Depolarization, depolarizing bipolar cell response due to the mutation on the ''NYX'' gene. Most of the time, CSNB are associated to hygh Near-sightedness, myopia which is the result of a mutation on the same gene. Several mutations can occur on the ''NYX'' gene resulting on many form of night blindness in humans. Some studies show that these mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the involuntary movement of the eye, it has been called "dancing eyes". In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key form ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CACNA1F
Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene. This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congenital stationary night blindness Congenital stationary night blindness (CSNB) is a rare non-progressi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nyctalopia
Nyctalopia (; ), also called night-blindness, is a condition making it difficult or impossible to see in relatively low light. It is a symptom of several eye diseases. Night blindness may exist from birth, or be caused by injury or malnutrition (for example, vitamin A deficiency). It can be described as insufficient adaptation to darkness. The most common cause of nyctalopia is retinitis pigmentosa, a disorder in which the rod cells in the retina gradually lose their ability to respond to the light. Patients with this genetic condition have progressive nyctalopia and eventually, their daytime vision may also be affected. In X-linked congenital stationary night blindness, from birth the rods either do not work at all, or work very little, but the condition does not get worse. Another cause of night blindness is a deficiency of retinol, or vitamin A1, found in fish oils, liver and dairy products. The opposite problem, the inability to see in bright light, is known as ''hemeralopia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Outer Nuclear Layer
The outer nuclear layer (or layer of outer granules or external nuclear layer), is one of the layers of the vertebrate retina, the light-detecting portion of the eye. Like the inner nuclear layer The inner nuclear layer or layer of inner granules, of the retina, is made up of a number of closely packed cells, of which there are three varieties, viz.: bipolar cells, horizontal cells, and amacrine cells. Bipolar cells The bipolar cells, by ..., the outer nuclear layer contains several strata of oval nuclear bodies; they are of two kinds, viz.: rod and cone granules, so named on account of their being respectively connected with the rods and cones of the next layer. Rod granules The spherical rod granules are much more numerous, and are placed at different levels throughout the layer. Their nuclei present a peculiar cross-striped appearance, and prolonged from either extremity of each cell is a fine process; the outer process is continuous with a single rod of the layer of rods an ... [...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] |
Hyperopia
Far-sightedness, also known as long-sightedness, hypermetropia, or hyperopia, is a condition of the eye where distant objects are seen clearly but near objects appear blurred. This blurred effect is due to incoming light being focused behind, instead of on, the retina wall due to insufficient accommodation by the lens. Minor hypermetropia in young patients is usually corrected by their accommodation, without any defects in vision. But, due to this accommodative effort for distant vision, people may complain of eye strain during prolonged reading. Some hypermetropes can see clear at distance, but near vision may be blurred due to insufficient accommodation. For this reason, this defect is referred as far-sightedness. If the hypermetropia is high, there will be defective vision for both distance and near. People may also experience accommodative dysfunction, binocular dysfunction, amblyopia, and strabismus. Newborns are almost invariably hypermetropic, but it gradually decreas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rod Cell
Rod cells are photoreceptor cells in the retina of the eye that can function in lower light better than the other type of visual photoreceptor, cone cells. Rods are usually found concentrated at the outer edges of the retina and are used in peripheral vision. On average, there are approximately 92 million rod cells (vs ~6 million cones) in the human retina. Rod cells are more sensitive than cone cells and are almost entirely responsible for night vision. However, rods have little role in color vision, which is the main reason why colors are much less apparent in dim light. Structure Rods are a little longer and leaner than cones but have the same basic structure. Opsin-containing disks lie at the end of the cell adjacent to the retinal pigment epithelium, which in turn is attached to the inside of the eye. The stacked-disc structure of the detector portion of the cell allows for very high efficiency. Rods are much more common than cones, with about 120 million rod cells compar ... [...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] |
Electroretinogram
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 stimulus a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinal Bipolar Cell
As a part of the retina, bipolar cells exist between photoreceptors (rod cells and cone cells) and ganglion cells. They act, directly or indirectly, to transmit signals from the photoreceptors to the ganglion cells. Structure Bipolar cells are so-named as they have a central body from which two sets of processes arise. They can synapse with either rods or cones (rod/cone mixed input BCs have been found in teleost fish but not mammals), and they also accept synapses from horizontal cells. The bipolar cells then transmit the signals from the photoreceptors or the horizontal cells, and pass it on to the ganglion cells directly or indirectly (via amacrine cells). Unlike most neurons, bipolar cells communicate via graded potentials, rather than action potentials. Function Bipolar cells receive synaptic input from either rods or cones, or both rods and cones, though they are generally designated rod bipolar or cone bipolar cells. There are roughly 10 distinct forms of cone bipolar ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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