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Gelatinous Drop-like Corneal Dystrophy
Gelatinous drop-like corneal dystrophy, also known as amyloid corneal dystrophy, is a rare form of corneal dystrophy. The disease was described by Nakaizumi as early as 1914.Nakaizumi, K. : A rare case of corneal dystrophy. Acta. Soc. Ophthal. Jpn. 18: 949-950, 1914 Presentation The main pathological features in this dystrophy are mulberry-shaped gelatinous masses beneath the corneal epithelium. Patients suffer from photophobia, foreign body sensation in the cornea. The loss of vision is severe. The amyloid nodules have been found to contain lactoferrin, but the gene encoding lactoferrin is unaffected. This form of corneal amyloidosis appears to be more frequent in Japan. Genetics A number of mutations causing this disease have been described in the M1S1 (TACSTD2) gene encoding ''Tumor-associated calcium signal transducer 2'', but not all patients have these mutations, suggesting involvement of other genes. Diagnosis Treatment Recurrence within a few years occurs in all ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gelatinous Drop-like Corneal Dystrophy 5
Gelatin or gelatine (from la, gelatus meaning "stiff" or "frozen") is a translucent, colorless, flavorless food ingredient, commonly derived from collagen taken from animal body parts. It is brittle when dry and rubbery when moist. It may also be referred to as hydrolyzed collagen, collagen hydrolysate, gelatine hydrolysate, hydrolyzed gelatine, and collagen peptides after it has undergone hydrolysis. It is commonly used as a gelling agent in food, beverages, medications, drug or vitamin capsules, photographic films, papers, and cosmetics. Substances containing gelatin or functioning in a similar way are called gelatinous substances. Gelatin is an irreversibly hydrolyzed form of collagen, wherein the hydrolysis reduces protein fibrils into smaller peptides; depending on the physical and chemical methods of denaturation, the molecular weight of the peptides falls within a broad range. Gelatin is present in gelatin desserts, most gummy candy and marshmallows, ice creams, dips ... [...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] |
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 vess ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyloid
Amyloids are aggregates of proteins characterised by a fibrillar morphology of 7–13 nm in diameter, a beta sheet (β-sheet) secondary structure (known as cross-β) and ability to be stained by particular dyes, such as Congo red. In the human body, amyloids have been linked to the development of various diseases. Pathogenic amyloids form when previously healthy proteins lose their normal structure and physiological functions ( misfolding) and form fibrous deposits in amyloid plaques around cells which can disrupt the healthy function of tissues and organs. Such amyloids have been associated with (but not necessarily as the cause of) more than 50 human diseases, known as amyloidosis, and may play a role in some neurodegenerative diseases. Some of these diseases are mainly sporadic and only a few cases are familial. Others are only familial. Some are iatrogenic as they result from medical treatment. Prions are an infectious form of amyloids that can act as a template ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lactoferrin
Lactoferrin (LF), also known as lactotransferrin (LTF), is a multifunctional protein of the transferrin family. Lactoferrin is a globular glycoprotein with a molecular mass of about 80 kDa that is widely represented in various secretory fluids, such as milk, saliva, tears, and nasal secretions. Lactoferrin is also present in secondary granules of PMNs and is secreted by some acinar cells. Lactoferrin can be purified from milk or produced recombinantly. Human colostrum (''"first milk"'') has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is one of the components of the immune system of the body; it has antimicrobial activity ( bacteriocide, fungicide) and is part of the innate defense, mainly at mucoses. In particular, lactoferrin provides antibacterial activity to human infants. Lactoferrin interacts with DNA and RNA, polysaccharides and heparin, and shows some of its biological functions in complexes with these ligands. Lac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TACSTD2
Tumor-associated calcium signal transducer 2, also known as Trop-2 and as epithelial glycoprotein-1 antigen (EGP-1),Immunomedics Awarded Fast Track Designation by FDA for Sacituzumab Govitecan (IMMU-132) for Triple-Negative Breast Cancer Therap/ref> is a protein that in humans is encoded by the ''TACSTD2'' gene. This intronless gene encodes a carcinoma-associated antigen defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane proteins. It transduces an intracellular calcium signal and acts as a cell surface receptor. Mutations of this gene result in gelatinous drop-like corneal dystrophy, an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Trop-2 expression was originally described in trophoblasts (placenta) and fetal tissues (e.g., lung). Later, its expression was also described in the normal stratified squamous epithelium of the skin, uterine cervix, esophagus, and tons ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet J Rare Dis
The ''Orphanet Journal of Rare Diseases'' is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and the editor-in-chief is Francesc Palau (Hospital Sant Joan de Déu Barcelona and CIBERER, Spain). It is an official journal of Orphanet and is published by BioMed Central, which is part of Springer Nature. Aims, scope and content By its own definition, Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes reviews on specific rare diseases, as well as articles on clinical trial outcome reports (positive or negative), and articles on public health issues in the field of rare diseases and orphan drugs. Readers can find contributions which are directly from patients affected by a rare disease or about events, such as the Rare Disease Day. Readers also have the possibility to search articles according to their subject or have t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corneal Transplantation
Corneal transplantation, also known as corneal grafting, is a surgical procedure where a damaged or diseased cornea is replaced by donated corneal tissue (the graft). When the entire cornea is replaced it is known as penetrating keratoplasty and when only part of the cornea is replaced it is known as lamellar keratoplasty. Keratoplasty simply means surgery to the cornea. The graft is taken from a recently deceased individual with no known diseases or other factors that may affect the chance of survival of the donated tissue or the health of the recipient. The cornea is the transparent front part of the eye that covers the iris, pupil and anterior chamber. The surgical procedure is performed by ophthalmologists, physicians who specialize in eyes, and is often done on an outpatient basis. Donors can be of any age, as is shown in the case of Janis Babson, who donated her eyes after dying at the age of 10. Corneal transplantation is performed when medicines, keratoconus conse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
