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Finnish Type Amyloidosis
Lattice corneal dystrophy type is a rare form of corneal dystrophy. It has no systemic manifestations, unlike the other type of the dystrophy, Lattice corneal dystrophy type II. Lattice corneal dystrophy was first described by Swiss ophthalmologist Hugo Biber in 1890.H. Biber: Über einige seltenere Hornhauterkrankungen. Zürich, 1890. Inaugural Dissertation, Zurich, 1890. Cited by O. Haab: Die gittrige Keratitis. Lattice dystrophy gets its name from an accumulation of amyloid deposits, or abnormal protein fibers, throughout the middle and anterior stroma. Presentation Filamentous opacities appear in the cornea with intertwining delicate branching processes. During an eye examination, the doctor sees these deposits in the stroma as clear, comma-shaped overlapping dots and branching filaments, creating a lattice effect. Over time, the lattice lines will grow opaque and involve more of the stroma. They will also gradually converge, giving the cornea a cloudiness that may also redu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TGFBI
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the ''TGFBI'' gene, locus 5q31. Function This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrin Integrins are transmembrane receptors that facilitate cell-cell and cell-extracellular matrix (ECM) adhesion. Upon ligand binding, integrins activate signal transduction pathways that mediate cellular signals such as regulation of the cell cycle, ...s. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Clinical significance Mutations of the gene cause several forms of corneal dystrophies. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a medical degree, a doctor specialising in ophthalmology must pursue additional postgraduate residency (medicine), residency training specific to that field. This may include a one-year integrated internship that involves more general medical training in other fields such as internal medicine or general surgery. Following residency, additional specialty training (or fellowship) may be sought in a particular aspect of eye pathology. Ophthalmologists prescribe medications to treat eye diseases, implement laser therapy, and perform surgery when needed. Ophthalmologists provide both primary and specialty eye care - medical and surgical. Most ophthalmologists participate in academic research on eye diseases at some point in their training an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyloidosis
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. There are several non-specific and vague signs and symptoms associated with amyloidosis. These include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and Orthostatic hypotension, feeling faint with standing. In AL amyloidosis, specific indicators can include enlargement of the tongue and periorbital purpura. In wild-type ATTR amyloidosis, non-cardiac symptoms include: bilateral carpal tunnel syndrome, lumbar spinal stenosis, biceps tendon rupture, Small fiber peripheral neuropathy, small fiber neuropathy, and autonomic dysfunction. There are about 36 different types of amyloidosis, each due to a specific Proteopathy, protein misfolding. Within these 36 proteins, 19 are grouped into Organ-limited amyloidosis, localized forms, 14 are grouped as Systemic disease, systemic forms, and 3 proteins can identify as either. These proteins can become irre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recurrent Corneal Erosion
Recurrent corneal erosion is a disorder of the eyes characterized by the failure of the cornea's outermost layer of epithelial cells to attach to the underlying basement membrane ( Bowman's layer). The condition is excruciatingly painful because the loss of these cells results in the exposure of sensitive corneal nerves. This condition can often leave patients with temporary blindness due to extreme light sensitivity (photophobia). Signs and symptoms Symptoms include recurring attacks of severe acute ocular pain, foreign-body sensation, photophobia (i.e. sensitivity to bright lights), and tearing often at the time of awakening or during sleep when the eyelids are rubbed or opened. Signs of the condition include corneal abrasion or localized roughening of the corneal epithelium, sometimes with map-like lines, epithelial dots or microcysts, or fingerprint patterns. An epithelial defect may be present, usually in the inferior interpalpebral zone. Cause Most cases of recurrent cornea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lattice Corneal Dystrophy Type II Cornea Cut
Lattice may refer to: Arts and design * Latticework, an ornamental criss-crossed framework, an arrangement of crossing laths or other thin strips of material * Lattice (music), an organized grid model of pitch ratios * Lattice (pastry), an ornamental pattern of crossing strips of pastry Companies * Lattice Engines, a technology company specializing in business applications for marketing and sales * Lattice Group, a former British gas transmission business * Lattice Semiconductor, a US-based integrated circuit manufacturer Science, technology, and mathematics Mathematics * Lattice (group), a repeating arrangement of points ** Lattice (discrete subgroup), a discrete subgroup of a topological group whose quotient carries an invariant finite Borel measure ** Lattice (module), a module over a ring which is embedded in a vector space over a field ** Lattice graph, a graph that can be drawn within a repeating arrangement of points ** Lattice-based cryptography, encryption systems bas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lattice Corneal Dystrophy Type II Diagram
Lattice may refer to: Arts and design * Latticework, an ornamental criss-crossed framework, an arrangement of crossing laths or other thin strips of material * Lattice (music), an organized grid model of pitch ratios * Lattice (pastry), an ornamental pattern of crossing strips of pastry Companies * Lattice Engines, a technology company specializing in business applications for marketing and sales * Lattice Group, a former British gas transmission business * Lattice Semiconductor, a US-based integrated circuit manufacturer Science, technology, and mathematics Mathematics * Lattice (group), a repeating arrangement of points ** Lattice (discrete subgroup), a discrete subgroup of a topological group whose quotient carries an invariant finite Borel measure ** Lattice (module), a module over a ring which is embedded in a vector space over a field ** Lattice graph, a graph that can be drawn within a repeating arrangement of points ** Lattice-based cryptography, encryption systems bas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Amyloidosis, Finnish Type
Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin. First described in 1969 by the Finnish ophthalmologist Jouko Meretoja, FAF is uncommon with 400–600 cases described in Finland and 15 elsewhere. Clinical presentation The disorder is primarily associated with eye, skin, and cranial nerve symptoms with the onset of symptoms appearing between the thirties and fifties. The most common characteristic is type II lattice corneal dystrophy with other signs such as polyneuropathy, dermatochalasis, open-angle glaucoma, bilateral progressive facial paralysis, cutis laxa, skin fragility with ecchymosis, facial mask, diffuse hair loss, dry skin, carpal tunnel syndrome, nephrotic syndrome, cardiomyopathy with conduction alterations, and early aging associated wi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gelsolin
Gelsolin is an actin-binding protein that is a key regulator of actin filament assembly and disassembly. Gelsolin is one of the most potent members of the actin-severing gelsolin/villin superfamily, as it severs with nearly 100% efficiency. Cellular gelsolin, found within the cytosol and mitochondria, has a closely related secreted form, Plasma gelsolin, that contains an additional 24 AA N-terminal extension. Plasma gelsolin's ability to sever actin filaments helps the body recover from disease and injury that leaks cellular actin into the blood. Additionally it plays important roles in host innate immunity, activating macrophages and localizing of inflammation. Structure Gelsolin is an 82-kD protein with six homologous subdomains, referred to as S1-S6. Each subdomain is composed of a five-stranded β-sheet, flanked by two α-helices, one positioned perpendicular with respect to the strands and one positioned parallel. The β-sheets of the three N-terminal subdomains (S1-S3) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cutis Laxa
Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds. Signs and symptoms It is characterised by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin can be either generalised or localised. Biopsies have shown reduction and degeneration of dermal elastic fibres in the affected areas of skin. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints may be loose ( hypermobile) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart (supravalvular pulmonary stenosis), intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed. Patients can also present with whites of the eyes that are blue. Causes In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Several possible causes exist for these patterns of neurological dysfunction. Dystaxia is a mild degree of ataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. The word is from Greek α- negative prefix+ -τάξις rder= "lack of order". Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. Although a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
