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Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience " tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood. Retinitis pigmentosa is generally inherited from one or both parents. It is caused by genetic variants in nearly 100 genes. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis. When these rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells. Diagnosis is through eye examination of the retina ...
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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 ...
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Genes
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: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ...
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Visual Prosthesis
A visual prosthesis, often referred to as a bionic eye, is a visual device intended to restore functional vision in those with partial or total blindness. Many devices have been developed, usually modeled on the cochlear implant or bionic ear devices, a type of neural prosthesis in use since the mid-1980s. The idea of using electrical current (e.g., electrically stimulating the retina or the visual cortex) to provide sight dates back to the 18th century, discussed by Benjamin Franklin, Tiberius Cavallo, and Charles LeRoy. Biological considerations The ability to give sight to a blind person via a bionic eye depends on the circumstances surrounding the loss of sight. For retinal prostheses, which are the most prevalent visual prosthetic under development (due to ease of access to the retina among other considerations), patients with vision loss due to degeneration of photoreceptors (retinitis pigmentosa, choroideremia, geographic atrophy macular degeneration) are the best c ...
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Vitamin A Palmitate
Retinyl palmitate, or vitamin A palmitate, is the ester of retinol (vitamin A) and palmitic acid, with formula C36H60O2. It is the most abundant form of vitamin A storage in animals. An alternate spelling, retinol palmitate, which violates the -yl organic chemical naming convention for esters, is also frequently seen. In 2021, vitamin A was the 298th most commonly prescribed medication in the United States, with more than 500,000 prescriptions. Biology Animals use long-chain esters of vitamin A, most abundantly the palmitate form, as a form of vitamin A storage. The storage reaction is catalyzed by LRAT, and the inverse is catalyzed by REH. The esters are also intermediates in the visual cycle: RPE65 isomerizes the retinyl part to 11-cis-retinal. Uses Vitamin A palmitate is a common vitamin supplement, available in both oral and injectable forms for treatment of vitamin A deficiency, under the brand names Aquasol A, Palmitate A, and many others. It is a constituent of in ...
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Low Vision Aids
A magnifying glass is a convex lens—usually mounted in a frame with a handle—that is used to produce a magnified image of an object. A magnifying glass can also be used to focus light, such as to concentrate the Sun's radiation to create a hot spot at the focus for fire starting. Evidence of magnifying glasses exists from antiquity. The magnifying glass is an icon of detective fiction, particularly that of Sherlock Holmes. An alternative to a magnifying glass is a sheet magnifier, which comprises many very narrow concentric ring-shaped lenses, such that the combination acts as a single lens but is much thinner. Use The convex lens of a magnifying glass can be used to produce a magnified image of an object. A magnifying glass can also be used to focus light, such as to concentrate the Sun's radiation to create a hot spot at the focus for fire starting.Pliny the Elder, Natural History, 36.67, 37.10. Magnification The magnification of a magnifying glass depends upon ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ...
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Visual Field Test
A visual field test is an eye examination that can detect dysfunction in central and peripheral vision which may be caused by various medical conditions such as glaucoma, stroke, pituitary disease, brain tumours or other neurological deficits. Visual field testing can be performed clinically by keeping the subject's gaze fixed while presenting objects at various places within their visual field. Simple manual equipment can be used such as in the tangent screen test or the Amsler grid. When dedicated machinery is used it is called a perimeter. The exam may be performed by a technician in one of several ways. The test may be performed by a technician directly, with the assistance of a machine, or completely by an automated machine. Machine-based tests aid diagnostics by allowing a detailed printout of the patient's visual field. Other names for this test may include perimetry, Tangent screen exam, Automated perimetry exam, Goldmann visual field exam, or brand names such as the H ...
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Electroretinography
Electroretinography measures the electrical responses of various cell types in the retina, including the Photoreceptor cell, photoreceptors (rod cell, rods and cone cell, cones), inner retinal cells (Retinal bipolar cell, bipolar and amacrine cell, amacrine cells), and the Retinal ganglion cell, 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 Electrooculography, EOG test with skin-contact electrodes placed near the Canthus, canthi. During a recording, the patient's eyes are exposed to standardized stimulus (physiology), 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 type ...
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Melanin
Melanin (; ) is a family of biomolecules organized as oligomers or polymers, which among other functions provide the pigments of many organisms. Melanin pigments are produced in a specialized group of cells known as melanocytes. There are five basic types of melanin: eumelanin, pheomelanin, neuromelanin, allomelanin and pyomelanin. Melanin is produced through a multistage chemical process known as melanogenesis, where the oxidation of the amino acid tyrosine is followed by polymerization. Pheomelanin is a cysteinated form containing poly benzothiazine portions that are largely responsible for the red or yellow tint given to some skin or hair colors. Neuromelanin is found in the brain. Research has been undertaken to investigate its efficacy in treating neurodegenerative disorders such as Parkinson's. Allomelanin and pyomelanin are two types of nitrogen-free melanin. The phenotypic color variation observed in the epidermis and hair of mammals is primarily determi ...
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Retinal Pigment Epithelium
The pigmented layer of retina or retinal pigment epithelium (RPE) is the pigment A pigment is a powder used to add or alter color or change visual appearance. Pigments are completely or nearly solubility, insoluble and reactivity (chemistry), chemically unreactive in water or another medium; in contrast, dyes are colored sub ...ed cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells. History The RPE was known in the 18th and 19th centuries as the pigmentum nigrum, referring to the observation that the RPE is dark (black in many animals, brown in humans); and as the tapetum nigrum, referring to the observation that in animals with a tapetum lucidum, in the region of the tapetum lucidum the RPE is not pigmented. Anatomy The RPE is composed of a single layer of hexagonal cells that are densely packed with pigment granules. When viewed from the outer surface, ...
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Apoptosis
Apoptosis (from ) is a form of programmed cell death that occurs in multicellular organisms and in some eukaryotic, single-celled microorganisms such as yeast. Biochemistry, Biochemical events lead to characteristic cell changes (Morphology (biology), morphology) and death. These changes include Bleb (cell biology), blebbing, Plasmolysis, cell shrinkage, Karyorrhexis, nuclear fragmentation, Pyknosis, chromatin condensation, Apoptotic DNA fragmentation, DNA fragmentation, and mRNA decay. The average adult human loses 50 to 70 1,000,000,000, billion cells each day due to apoptosis. For the average human child between 8 and 14 years old, each day the approximate loss is 20 to 30 billion cells. In contrast to necrosis, which is a form of traumatic cell death that results from acute cellular injury, apoptosis is a highly regulated and controlled process that confers advantages during an organism's life cycle. For example, the separation of fingers and toes in a developing human embryo ...
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Neuroprotection
Neuroprotection refers to the relative preservation of neuronal structure and/or function. In the case of an ongoing insult (a neurodegenerative insult) the relative preservation of neuronal integrity implies a reduction in the rate of neuronal loss over time, which can be expressed as a differential equation. Mechanisms in neurodegeneration, and associated treatments It is a widely explored treatment option for many central nervous system disorders including neurodegenerative diseases, stroke, traumatic brain injury, spinal cord injury, and acute management of neurotoxin consumption (i.e. methamphetamine Methamphetamine (contracted from ) is a potent central nervous system (CNS) stimulant that is mainly used as a recreational drug use, recreational or Performance-enhancing substance, performance-enhancing drug and less commonly as a secon ... overdoses). Neuroprotection aims to prevent or slow disease progression and secondary injuries by halting or at least slowing th ...
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