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Heterochromia Iridum
Heterochromia is a variation in coloration most often used to describe color differences of the iris, but can also be applied to color variation of hair or skin. Heterochromia is determined by the production, delivery, and concentration of melanin (a pigment). It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury. It occurs in humans and certain breeds of domesticated animals. Heterochromia of the eye is called heterochromia iridum (heterochromia between the two eyes) or heterochromia iridis (heterochromia within one eye). It can be complete, sectoral, or central. In complete heterochromia, one iris is a different color from the other. In sectoral heterochromia, part of one iris is a different color from its remainder. In central heterochromia, there is a ring around the pupil or possibly spikes of different colors radiating from the pupil. Though multiple causes have been posited, the scientific consensus is that a lack of genetic diversity is t ...
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Color
Color (or colour in English in the Commonwealth of Nations, Commonwealth English; American and British English spelling differences#-our, -or, see spelling differences) is the visual perception based on the electromagnetic spectrum. Though color is not an inherent property of matter, color perception is related to an object's light absorption, emission spectra, emission, Reflection (physics), reflection and Transmittance, transmission. For most humans, colors are perceived in the visible light spectrum with three types of cone cells (trichromacy). Other animals may have a different number of cone cell types or have eyes sensitive to different wavelengths, such as bees that can distinguish ultraviolet, and thus have a different color sensitivity range. Animal perception of color originates from different light wavelength or spectral sensitivity in cone cell types, which is then processed by the brain. Colors have perceived properties such as hue, colorfulness (saturation), and ...
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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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Pigment Dispersion Syndrome
Pigment dispersion syndrome (PDS) is an eye disorder that can lead to a form of glaucoma known as pigmentary glaucoma. It takes place when pigment cells slough off from the back of the iris and float around in the aqueous humor. Over time, these pigment cells can accumulate in the anterior chamber in such a way that they begin to clog the trabecular meshwork (the major site of aqueous humour drainage), which can in turn prevent the aqueous humour from draining and therefore increases the pressure inside the eye. A common finding in PDS are central, vertical corneal endothelial pigment deposits, known as Krukenberg spindle. With PDS, the intraocular pressure tends to spike at times and then can return to normal. Exercise has been shown to contribute to spikes in pressure as well. When the pressure is great enough to cause damage to the optic nerve, this is called pigmentary glaucoma. As with all types of glaucoma, when damage happens to the optic nerve fibers, the vision loss ...
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Episclera
The episclera is the outermost layer of the sclera The sclera, also known as the white of the eye or, in older literature, as the tunica albuginea oculi, is the opaque, fibrous, protective outer layer of the eye containing mainly collagen and some crucial elastic fiber. In the development of t ... (the white of the eye).Cassin, B. and Solomon, S. ''Dictionary of Eye Terminology''. Gainesville, Florida: Triad Publishing Company, 1990. It is composed of loose, fibrous, elastic tissue and attaches to Tenon's capsule. A vascular plexus is found between the bulbar conjunctiva and the sclera consisting of two layers of vessels, the superficial episcleral vessels and the deep episcleral vessels. Clinical significance In episcleritis, the episclera and Tenon's capsule are infiltrated with inflammatory cells.Heath, G"The episclera, sclera and conjunctiva: An overview of relevant ocular anatomy." ''OT''. February 10, 2006. References Human eye anatomy {{eye-stub ...
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Uvea (anatomy)
The uvea (; derived from meaning "grape"), also called the uveal layer, uveal coat, uveal tract, vascular tunic or vascular layer, is the pigmented middle layer of the three concentric layers that make up an eye, precisely between the inner retina and the outer fibrous layer composed of the sclera and cornea. History and etymology The originally medieval Latin term comes from the Latin word ''uva'' ("grape") and is a reference to its grape-like appearance (reddish-blue or almost black colour, wrinkled appearance and grape-like size and shape when stripped intact from a cadaveric eye). In fact, it is a partial loan translation of the Ancient Greek term for the choroid, which literally means “covering resembling a grape”. Its use as a technical term for part of the eye is ancient, but it only referred to the choroid in Middle English and before. Structure Regions The uvea is the vascular middle layer of the eye. It is traditionally divided into three areas, from front ...
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Neurofibromatosis
Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, each condition presents differently. neurofibromatosis type I, Neurofibromatosis type I (NF1) is typically characterized by Café au lait spot, café au lait spots (light-brown flat patches of skin), Neurofibroma, neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and Headache, headaches. neurofibromatosis type II, Neurofibromatosis type II (NF2), on the other hand, may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy. The third type is called schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression. The cause is a genetic mutation in certain oncogenes. These c ...
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Hamartoma
A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell ( monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term ''hamartoma'' is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies. Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells. Many of these conditions are classified as overgrowth syndromes or cancer syndromes. Hamartomas occur in many different parts of the body and are most often ...
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Lisch Nodules
Lisch nodule, also known as iris hamartoma, is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris, named after Austrian ophthalmologist Karl Lisch (1907–1999), who first recognized them in 1937. The first published use of the term ''Lisch nodule'' was in the ''New England Journal of Medicine'' "Medical Progress" series article of December 31, 1981 (Riccardi VM: Von Recklinghausen Neurofibromatosis. ''N Engl J Med'' 1981;305:1617–27). These nodules are found in neurofibromatosis type 1, and are present in greater than 94% of patients over the age of six. They are clear, yellow-brown, oval to round, dome-shaped papules that project from the surface of the iris. These nodules typically do not affect vision, but are very useful in diagnosis. They are detected by slit lamp examination. Immunohistochemistry stains positive against the proteins vimentin and S-100, and points to an ectodermal origin for the nodules. Their precise origin and stru ...
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Congenital
A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or developmental disability, developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic disorder, metabolic and degenerative disease, degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic disorder, genetic or chromosome abnormality, chromosomal disorders, exposure to certain medications or chemicals, or certain vertically transmitted infection, infections during pregnancy. Risk factors include folate deficiency, alcohol drink, d ...
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Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Phenotypic trait, Trait inheritance and Molecular genetics, molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the Cell (bi ...
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