Corneal Dystrophy
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Corneal Dystrophy
Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea. Signs and symptoms Corneal dystrophy may not significantly affect vision in the early stages. However, it does require proper evaluation and treatment for restoration of optimal vision. Corneal dystrophies usually manifest themselves during the first or second decade but sometimes later. It appears as grayish white lines, circles, or clouding of the cornea. Corneal dystrophy can also have a crystalline appearance. There are over 20 corneal dystrophies that affect all parts of the cornea. These diseases share many traits: * They are usually inherited. * They affect the right and left eyes equally. * They are not caused by outside factors, such as injury or diet. * Most progress gradually. * Most usually begin in one of the five corneal layers and may later spread to nearby layers. * Most do not affect oth ...
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Cornea
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is approximately 43 dioptres. The cornea can be reshaped by surgical procedures such as LASIK. While the cornea contributes most of the eye's focusing power, its focus is fixed. Accommodation (the refocusing of light to better view near objects) is accomplished by changing the geometry of the lens. Medical terms related to the cornea often start with the prefix "'' kerat-''" from the Greek word κέρας, ''horn''. Structure The cornea has unmyelinated nerve endings sensitive to touch, temperature and chemicals; a touch of the cornea causes an involuntary reflex to close the eyelid. Because transparency is of prime importance, the healthy cornea does not have or need blood vessels with ...
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SLC4A11
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the ''SLC4A11'' gene. See also * Solute carrier family * Congenital endothelial dystrophy type 2 Congenital hereditary corneal dystrophy (CHED) is a form of corneal endothelial dystrophy that presents at birth. CHED was previously subclassified into two subtypes: CHED1 and CHED2. However in 2015, the International Classification of Corneal ... References Further reading * * * * * * * * * * * * * * Solute carrier family {{membrane-protein-stub ...
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Lisch Epithelial Corneal Dystrophy
Lisch epithelial corneal dystrophy (LECD), also known as band-shaped and whorled microcystic dystrophy of the corneal epithelium, is a rare form of corneal dystrophy first described in 1992 by Lisch et al. In one study it was linked to chromosomal region Xp22.3, with as yet unknown candidate gene The candidate gene approach to conducting genetic association studies focuses on associations between genetic variation within pre-specified genes of interest, and phenotypes or disease states. This is in contrast to genome-wide association studies ...s. The main features of this disease are bilateral or unilateral gray band-shaped and feathery opacities. They sometimes take on a form of a whirlpool, repeating the known pattern of corneal epithelium renewal. Abrasion of the epithelium in 3 patients brought only temporary relief, with abnormal epithelium regrowth in several months. Epithelial cells in the zones of opacity were shown to have diffuse cytoplasmic vacuoles with as yet unestabl ...
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Subepithelial Mucinous Corneal Dystrophy
Subepithelial mucinous corneal dystrophy (SMCD) is a rare form of corneal dystrophy. It was first described in 1993 by Feder et al. Anterior to Bowman layer, deposits of glycosaminoglycan were detected and identified as chondroitin-4-sulfate and dermatan sulfate Dermatan sulfate is a glycosaminoglycan (formerly called a mucopolysaccharide) found mostly in skin, but also in blood vessels, heart valves, tendons, and lungs. It is also referred to as chondroitin sulfate B, although it is no longer classifie .... References External links Disorders of sclera and cornea {{eye-disease-stub ...
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Dystrophia Helsinglandica
Dystrophy is the degeneration of tissue, due to disease or malnutrition, most likely due to heredity. Types * Muscular dystrophy ** Duchenne muscular dystrophy ** Becker's muscular dystrophy ** Myotonic dystrophy * Reflex neurovascular dystrophy * Retinal dystrophy * Cone dystrophy * Corneal dystrophy * Lipodystrophy * Nail dystrophy See also * Muscle weakness * Muscle atrophy * Myotonia * List of biological development disorders References Bibliography * Reece JB, Urry LA, Cain ML, Wasserman SA, Minorsky PV, Jackson RB. Campbell Biology (10th ed.). Addison Wesley Longman; 2014. {{DEFAULTSORT:Biological development disorders Lists of diseases Disability-related l ... {{Authority control Medical terminology ...
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Dystrophia Smolandiensis
Dystrophy is the degeneration of tissue, due to disease or malnutrition, most likely due to heredity. Types * Muscular dystrophy ** Duchenne muscular dystrophy ** Becker's muscular dystrophy ** Myotonic dystrophy * Reflex neurovascular dystrophy * Retinal dystrophy * Cone dystrophy * Corneal dystrophy * Lipodystrophy * Nail dystrophy See also * Muscle weakness * Muscle atrophy * Myotonia * List of biological development disorders References Bibliography * Reece JB, Urry LA, Cain ML, Wasserman SA, Minorsky PV, Jackson RB. Campbell Biology (10th ed.). Addison Wesley Longman; 2014. {{DEFAULTSORT:Biological development disorders Lists of diseases Disability-related l ... {{Authority control Medical terminology ...
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Franceschetti Corneal Dystrophy
Franceschetti is an Italian surname. Notable people with the surname include: *Adolphe Franceschetti (1896–1968), Swiss ophthalmologist ** Franceschetti–Klein syndrome **Naegeli–Franceschetti–Jadassohn syndrome ** Franceschetti-Zwahlen-Klein syndrome ** Treacher Collins-Franceschetti syndrome 1 *Benito Gennaro Franceschetti (1935-2012), Italian Roman Catholic archbishop of Fermo * Bruno Franceschetti (born 1941), Italian gymnast *Lou Franceschetti Louis Carlo Franceschetti (born March 28, 1958) is a Canadian former professional ice hockey player. He played in the National Hockey League with the Washington Capitals, Toronto Maple Leafs, and Buffalo Sabres between 1981 and 1991. He was selec ... (born 1958), Canadian ice hockey player {{surname Italian-language surnames Patronymic surnames Surnames from given names it:Franceschetti ...
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Epithelial Recurrent Erosion Dystrophies
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 intercellular matrix. Epithelial tissues line the outer surfaces of organs and blood vessels throughout the body, as well as the inner surfaces of cavities in many internal organs. An example is the epidermis, the outermost layer of the skin. There are three principal shapes of epithelial cell: squamous (scaly), columnar, and cuboidal. These can be arranged in a singular layer of cells as simple epithelium, either squamous, columnar, or cuboidal, or in layers of two or more cells deep as stratified (layered), or ''compound'', either squamous, columnar or cuboidal. In some tissues, a layer of columnar cells may appear to be stratified due to the placement of the nuclei. This sort of tissue is called pseudostratified. All glands are made up of epith ...
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Epithelial Basement Membrane Dystrophy
Epithelial basement membrane dystrophy (EBMD) is a disorder of the eye that can cause pain and dryness. It is sometimes included in the group of corneal dystrophies. It diverges from the formal definition of corneal dystrophy since it is non-familial in most cases. It also has a fluctuating course, while for a typical corneal dystrophy the course is progressive. When it is considered part of this group, it is the most common type of corneal dystrophy. Signs and symptoms Patients may complain of severe problems with dry eyes, or with visual obscurations. It can also be asymptomatic, and only discovered because of subtle lines and marks seen during an eye exam. EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Findings are variable and can change with time. While the disorder is usually asymptomatic, up to 10% of patients may have recurrent corneal e ...
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Cholesterol
Cholesterol is any of a class of certain organic molecules called lipids. It is a sterol (or modified steroid), a type of lipid. Cholesterol is biosynthesized by all animal cells and is an essential structural component of animal cell membranes. When chemically isolated, it is a yellowish crystalline solid. Cholesterol also serves as a precursor for the biosynthesis of steroid hormones, bile acid and vitamin D. Cholesterol is the principal sterol synthesized by all animals. In vertebrates, hepatic cells typically produce the greatest amounts. It is absent among prokaryotes (bacteria and archaea), although there are some exceptions, such as '' Mycoplasma'', which require cholesterol for growth. François Poulletier de la Salle first identified cholesterol in solid form in gallstones in 1769. However, it was not until 1815 that chemist Michel Eugène Chevreul named the compound "cholesterine". Etymology The word "cholesterol" comes from the Ancient Greek ''chole-'' ...
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Lipid
Lipids are a broad group of naturally-occurring molecules which includes fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E and K), monoglycerides, diglycerides, phospholipids, and others. The functions of lipids include storing energy, signaling, and acting as structural components of cell membranes. Lipids have applications in the cosmetic and food industries, and in nanotechnology. Lipids may be broadly defined as hydrophobic or amphiphilic small molecules; the amphiphilic nature of some lipids allows them to form structures such as vesicles, multilamellar/unilamellar liposomes, or membranes in an aqueous environment. Biological lipids originate entirely or in part from two distinct types of biochemical subunits or "building-blocks": ketoacyl and isoprene groups. Using this approach, lipids may be divided into eight categories: fatty acyls, glycerolipids, glycerophospholipids, sphingolipids, saccharolipids, and polyketides (derived from condensati ...
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Congenital Hereditary Endothelial Dystrophy
Congenital hereditary corneal dystrophy (CHED) is a form of corneal endothelial dystrophy that presents at birth. CHED was previously subclassified into two subtypes: CHED1 and CHED2. However in 2015, the International Classification of Corneal Dystrophies (IC3D) renamed the condition "CHED1" to become posterior polymorphous corneal dystrophy, and renamed the condition "CHED2" to become, simply, CHED. Consequently, the scope of this article is restricted to the condition currently referred to as ''CHED'' Signs and symptoms CHED presents congenitally, but has a stationary course. The cornea exhibits a variable degree of clouding: from a diffuse haze, to a "ground glass" appearance, with occasional focal gray spots. The cornea thickens to between two and three times is normal thickness. Rarely, sub-epithelial band keratopathy and elevated intraocular pressure occur. Patients have blurred vision and nystagmus, however it is rare for the condition to be associated with either epi ...
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