Iridogoniodysgenesis, Dominant Type
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Iridogoniodysgenesis, Dominant Type
Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells. These cells lead to formation of most of the anterior segment structures of the eye (corneal stroma & endothelium, iris stroma, trabeculum). Symptoms and signs Symptoms include iris hypoplasis, goniodysgenesis, and juvenile glaucoma. Glaucoma phenotype that maps to 6p25 results from mutations in the forkhead transcription factor gene FOXC1 Cause This is transmitted through an autosomal dominant pattern with complete penetrance and variable expressivity. Diagnosis Treatment Treatment of glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in wh ...
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Anterior
Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position provides a definition of what is at the front ("anterior"), behind ("posterior") and so on. As part of defining and describing terms, the body is described through the use of anatomical planes and anatomical axes. The meaning of terms that are used can change depending on whether an organism is bipedal or quadrupedal. Additionally, for some animals such as invertebrates, some terms may not have any meaning at all; for example, an animal that is radially symmetrical will have no anterior surface, but can still have a description that a part is close to the middle ("proximal") or further from the middle ("distal"). International organisations have determined vocabularies that are often used as standard vocabularies for subdisciplines of anatomy ...
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Human Eye
The human eye is a sensory organ, part of the sensory nervous system, that reacts to visible light and allows humans to use visual information for various purposes including seeing things, keeping balance, and maintaining circadian rhythm. The eye can be considered as a living optical device. It is approximately spherical in shape, with its outer layers, such as the outermost, white part of the eye (the sclera) and one of its inner layers (the pigmented choroid) keeping the eye essentially light tight except on the eye's optic axis. In order, along the optic axis, the optical components consist of a first lens (the cornea—the clear part of the eye) that accomplishes most of the focussing of light from the outside world; then an aperture (the pupil) in a diaphragm (the iris—the coloured part of the eye) that controls the amount of light entering the interior of the eye; then another lens (the crystalline lens) that accomplishes the remaining focussing of light into ...
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Neural Crest Cells
Neural crest cells are a temporary group of cells unique to vertebrates that arise from the embryonic ectoderm germ layer, and in turn give rise to a diverse cell lineage—including melanocytes, craniofacial cartilage and bone, smooth muscle, Peripheral nervous system, peripheral and enteric neurons and glia. After gastrulation, neural crest cells are specified at the border of the neural plate and the non-neural ectoderm. During neurulation, the borders of the neural plate, also known as the neural folds, converge at the dorsal midline to form the neural tube. Subsequently, neural crest cells from the roof plate of the neural tube undergo an Epithelial-mesenchymal transition, epithelial to mesenchymal transition, delaminating from the neuroepithelial cell, neuroepithelium and migrating through the periphery where they differentiate into varied cell types. The emergence of neural crest was important in vertebrate evolution because many of its structural derivatives are defining f ...
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Stroma Of Cornea
The stroma of the cornea (or substantia propria) is a fibrous, tough, unyielding, perfectly transparent and the thickest layer of the cornea of the eye. It is between Bowman's membrane anteriorly, and Descemet's membrane posteriorly. At its centre, human corneal stroma is composed of about 200 flattened ''lamellæ'' (layers of collagen fibrils), superimposed one on another. They are each about 1.5-2.5 μm in thickness. The anterior lamellæ interweave more than posterior lamellæ. The fibrils of each lamella are parallel with one another, but at different angles to those of adjacent lamellæ. The lamellæ are produced by keratocytes (corneal connective tissue cells), which occupy about 10% of the substantia propria. Apart from the cells, the major non-aqueous constituents of the stroma are collagen fibrils and proteoglycans. The collagen fibrils are made of a mixture of type I and type V collagens. These molecules are tilted by about 15 degrees to the fibril axis, and because of ...
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Stroma Of Iris
The stroma of the iris is a fibrovascular layer of tissue. It is the upper layer of two in the iris. Structure The stroma is a delicate interlacement of fibres. Some circle the circumference of the iris and the majority radiate toward the pupil. Blood vessels and nerves intersperse this mesh. In dark eyes, the stroma often contains pigment granules. Blue eyes and the eyes of albinos, however, lack pigment. The stroma connects to a sphincter muscle (sphincter pupillae), which contracts the pupil in a circular motion, and a set of dilator muscles (dilator pupillae) which pull the iris radially to enlarge the pupil, pulling it in folds. The back surface is covered by a commonly, heavily pigmented epithelial Epithelium or epithelial tissue is one of the four basic types of animal tissue, along with connective tissue, muscle tissue and nervous tissue. It is a thin, continuous, protective layer of compactly packed cells with a little intercellula ... layer that is two cells ...
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Trabecular Meshwork Of The Eye
The trabecular meshwork is an area of tissue in the eye located around the base of the cornea, near the ciliary body, and is responsible for draining the aqueous humor from the eye via the anterior chamber (the chamber on the front of the eye covered by the cornea). The tissue is spongy and lined by trabeculocytes; it allows fluid to drain into a set of tubes called Schlemm's canal which is lined by endothelium with blood and lymphatic properties that allow aqueous humor to flow into the blood system. Structure The meshwork is divided up into three parts, with characteristically different ultrastructures: #''Inner uveal meshwork'' - Closest to the anterior chamber angle, contains thin cord-like trabeculae, orientated predominantly in a radial fashion, enclosing trabeculae spaces larger than the corneoscleral meshwork. #''Corneoscleral meshwork'' - Contains a large amount of elastin, arranged as a series of thin, flat, perforated sheets arranged in a laminar pattern; consi ...
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Iris Hypoplasis
Iris most often refers to: * Iris (anatomy), part of the eye *Iris (mythology), a Greek goddess * ''Iris'' (plant), a genus of flowering plants * Iris (color), an ambiguous color term Iris or IRIS may also refer to: Arts and media Fictional entities * Iris (''American Horror Story''), an ''American Horror Story: Hotel'' character * Iris (''Fire Force''), a character in the manga series ''Fire Force'' * Iris (''Mega Man''), a ''Mega Man X4'' character ** Iris, a ''Mega Man Battle Network'' character * Iris (''Pokémon'') ** Iris (''Pokémon'' anime) * Iris, a '' Trolls: The Beat Goes On!'' character * Sorceress Iris, a ''Magicians of Xanth'' character * Iris, a kaiju character in '' Gamera 3: The Revenge of Iris'' * Iris, a ''LoliRock'' character * Iris, a '' Lufia II: Rise of the Sinistrals'' (1995) character * Iris, a '' Phoenix Wright: Ace Attorney − Trials and Tribulations'' character * Iris, a ''Ruby Gloom'' character * Iris, a '' Taxi Driver'' (1976) character * Ir ...
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Glaucoma
Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye remains open, with less common types including closed-angle (narrow angle, acute congestive) glaucoma and normal-tension glaucoma. Open-angle glaucoma develops slowly over time and there is no pain. Peripheral vision may begin to decrease, followed by central vision, resulting in blindness if not treated. Closed-angle glaucoma can present gradually or suddenly. The sudden presentation may involve severe eye pain, blurred vision, mid-dilated pupil, redness of the eye, and nausea. Vision loss from glaucoma, once it has occurred, is permanent. Eyes affected by glaucoma are referred to as being glaucomatous. Risk factors for glaucoma include increasing age, high pressure in the eye, a family history of glaucoma, and use of steroid medication. F ...
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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ...
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Forkhead Box C1
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the ''FOXC1'' gene. Function This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Heart development and somitogenesis FOXC1 and its close relative, FOXC2 are both critical components in the development of the heart and blood vessels, as well as the segmentation of the paraxial mesoderm and the formation of somites. Expression of the Fox proteins range from low levels in the posterior pre-somitic mesoderm (PSM) to the highest levels in the anterior PSM. Homozygous mutant embryos for both Fox proteins failed to form somites 1-8, which indicates the importance of these proteins early on in somite development. In cardiac morphogenesis, FOXC1 and FOXC2 are requir ...
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