Electroretinographic
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Electroretinographic
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 stim ...
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Ornithine Aminotransferase Deficiency
Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood. Clinically, it presents initially with poor night vision, which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner. Approximately 200 known cases have been reported in the literature. The incidence is highest in Finland, estimated at 1:50,000. Research suggests there can be some adverse effect on muscles and also the brain. The cause of this is somewhat unclear but may relate to very low levels of creatine often found in this population. Treatment may include vitamin B6, lysine or dramatic dietary change to minimise arginine from patients diet. Research has indicated that these treatments may be somewhat effective in lowering ornithine blood ...
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Electrography (other)
Electrography often refers to electrophotography, that is, Kirlian photography. Electrography may also refer to: * Measurement and recording of electrophysiology, electrophysiologic activity for diagnostic purposes ** Electrocardiography (ECG or EKG), electrography of heart electrical activity and rhythm ** Electromyography (EMG), electrography of other muscle action potentials throughout the body ** Electroencephalography (EEG), electrography of brain waves (from outside the skull) *** Electrocorticography or intracranial EEG (iEEG or ECoG), EEG with direct contact to the cerebral cortex ** Electrooculography (EOG), electrography of intraocular potential differences ** Electro-olfactography, Electroolfactography (EOG), electrography of olfaction (smell) ** Electroretinography (ERG), electrography of retinal cell action potentials ** Electronystagmography (ENG), electrography of eye muscle movements ** Electrocochleography (ECOG), electrography of cochlear auditory activity ** E ...
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2014 ERG Test
Fourteen or 14 may refer to: * 14 (number), the natural number following 13 and preceding 15 * one of the years 14 BC, AD 14, 1914, 2014 Music * 14th (band), a British electronic music duo * ''14'' (David Garrett album), 2013 *''14'', an unreleased album by Charli XCX * "14" (song), 2007, from ''Courage'' by Paula Cole Other uses * ''Fourteen'' (film), a 2019 American film directed by Dan Sallitt * ''Fourteen'' (play), a 1919 play by Alice Gerstenberg * ''Fourteen'' (manga), a 1990 manga series by Kazuo Umezu * ''14'' (novel), a 2013 science fiction novel by Peter Clines * ''The 14'', a 1973 British drama film directed by David Hemmings * Fourteen, West Virginia, United States, an unincorporated community * Lot Fourteen, redevelopment site in Adelaide, South Australia, previously occupied by the Royal Adelaide Hospital * "The Fourteen", a nickname for NASA Astronaut Group 3 * Fourteen Words, a phrase used by white supremacists and Nazis See also * 1/4 (other) * Fo ...
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Diabetic Retinopathy
Diabetic retinopathy (also known as diabetic eye disease), is a medical condition in which damage occurs to the retina due to diabetes mellitus. It is a leading cause of blindness in developed countries. Diabetic retinopathy affects up to 80 percent of those who have had both type 1 and type 2 diabetes for 20 years or more. In at least 90% of new cases, progression to more aggressive forms of sight threatening retinopathy and maculopathy could be reduced with proper treatment and monitoring of the eyes The longer a person has diabetes, the higher his or her chances of developing diabetic retinopathy. Each year in the United States, diabetic retinopathy accounts for 12% of all new cases of blindness. It is also the leading cause of blindness in people aged 20 to 64. Signs and symptoms Nearly all people with diabetes develop some degree of retina damage ("retinopathy") over several decades with the disease. For many, that damage can only be detected by a retinal exam, and has ...
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Usher Syndrome
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is a major cause of deafblindness and is at present incurable. Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern. The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany to as low as 1 in 28,000 in Norway. Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish populations. U ...
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Cone Dystrophy
A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. Presentation The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to "counting fingers" vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates. Dystrophy of the rods and cones Dystrophy of the light-sensing cells of the eye may also occur in the rods as well, or in both the cones and the rods. A type of rod-cone dystrophy—where rod function decline is typically earlier or more pronounced than cone dystrophy—has been identified as a relatively common characteristic ...
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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 is typi ...
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Retinoschisis
Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer. Retinoschisis can be divided into degenerative forms which are very common and almost exclusively involve the peripheral retina and hereditary forms which are rare and involve the central retina and sometimes the peripheral retina. The degenerative forms are asymptomatic and involve the peripheral retina only and do not affect the visual acuity. Some rarer forms result in a loss of vision in the corresponding visual field.Cassin, B. and Solomon, S. ''Dictionary of Eye Terminology''. Gainesville, Florida: Triad Publishing Company, 1990. Almost all cases are X-linked recessive and caused by a mutation in the retinoschisin gene (''RS1''). Classification *Hereditary **X linked juvenile retinoschisis **Familial foveal retinoschisis *Tractional *Exudative **Secondary to Optic disc pit *Degenerative **Typical **Reticular Degenerative retin ...
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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: rods, 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, sight. Rods primarily mediate scotopic vision (dim conditions) whereas cones primarily mediate to photopic vision (bright conditions), but the processes in each that supports phototransduction is similar. A third class of mammalian photoreceptor cell was discovered ...
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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 ...
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Choroideremia
Choroideremia (; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family. Choroideremia is caused by a loss-of-function mutation in the ''CHM'' gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. While the complete mechanism of disease is not fully understood, the lack of a functional protein in the retina results in cell death and the gradual deterioration of the retinal pigment epithelium (RPE), photoreceptors and the choroid. As of 2019, there is no treatment for choroideremia; however, retinal gene therapy clinical ...
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Leber's Congenital Amaurosis
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber. One form of LCA was successfully treated with gene therapy in 2008. Signs and symptoms The term congenital refers to a condition present from birth (not acquired) and amaurosis refers to a loss of vision not associated with a lesion. However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes. LCA is typically characterized by nystagmus, sluggish or absent pupillary responses, and severe vision loss or blindness. Genetics It is usually autosomal recessive; however, importantly for family planning, it is sometimes autosomal dominant. It is a disorder thought to be ...
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