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Granular Corneal Dystrophy Type II
Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood. Granular corneal dystrophy has two types: * Granular corneal dystrophy type I, also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. It was first described by German ophthalmologist Arthur Groenouw in 1890. * Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy is also a rare form of corneal dystrophy. The disorder was first described by Folberg et al. in 1988. The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino. Presentation Granular corneal dystrophy is diagnosed during an eye examination by an ophthalmologist or optometrist. The lesions consist of central, fine, whitish granular lesions in the cornea. Visual acuity is slightly reduced. Genetics Granular ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Granular Corneal Dystrophy Type II Slit Lamp
Granularity (also called graininess), the condition of existing in granules or grains, refers to the extent to which a material or system is composed of distinguishable pieces. It can either refer to the extent to which a larger entity is subdivided, or the extent to which groups of smaller indistinguishable entities have joined together to become larger distinguishable entities. Precision and ambiguity Coarse-grained materials or systems have fewer, larger discrete components than fine-grained materials or systems. * A coarse-grained description of a system regards large subcomponents. * A fine-grained description regards smaller components of which the larger ones are composed. The concepts granularity, coarseness, and fineness are relative; and are used when comparing systems or descriptions of systems. An example of increasingly fine granularity: a list of nations in the United Nations, a list of all states/provinces in those nations, a list of all cities in those states, ... [...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] |
Arthur Groenouw
Arthur Groenouw (27 March 1862 – 1945) was a German ophthalmologist born in Bosatz, a village near Racibórz, Ratibor. He studied medicine in University of Breslau, Breslau, and was an assistant to physiologist Rudolf Heidenhain (1834–1897) and ophthalmologist Wilhelm Uhthoff (1853–1927). In 1892 he was habilitated for ophthalmology in Breslau, and in 1899 attained the title of professor. In 1890 Groenouw described two different types of corneal dystrophy, of which he wrote about in an article titled "''Knötchenförmige Hornhauttrübungen''" (noduli corneae). At the time, he believed that the two types were variations of the same disease. Later on, his findings on corneal dystrophy were classified as two separate syndromes: * "Granular corneal dystrophy type I, Groenouw Type I": Granular type of corneal dystrophy. Characterized by discrete grey opacities scattered over the surface of the cornea. * "Macular corneal dystrophy, Groenouw Type II": Macular type of corneal d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Avellino
Avellino () is a town and ''comune'', capital of the province of Avellino in the Campania region of southern Italy. It is situated in a plain surrounded by mountains east of Naples and is an important hub on the road from Salerno to Benevento. History Before the Roman conquest, the ancient ''Abellinum'' was a centre of the Samnite Hirpini, located on the Civita hill some outside the current town, in what is now Atripalda. The city could correspond to the ancient ''Velecha'', documented by coins found in the area. ''Abellinum'' was conquered by the Romans in 293 BC, changing name several times in the following centuries (''Veneria'', ''Livia'', ''Augusta'', ''Alexandriana'', and ''Abellinatium''). However, the construction of a true Roman town occurred only after the conquest by Lucius Cornelius Sulla in the civil wars in 89 BC. He razed the old site and in 82 BC founded the colony Veneria Abellinatium on the left bank of the river Sabato. The new city was surrounded by mass ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmology (journal)
''Ophthalmology'' is a monthly peer-reviewed medical journal published by Elsevier on behalf of the American Academy of Ophthalmology. It covers all aspects of ophthalmology. Editors The following persons are or have been editor-in-chief An editor-in-chief (EIC), also known as lead editor or chief editor, is a publication's editorial leader who has final responsibility for its operations and policies. The highest-ranking editor of a publication may also be titled editor, managing ...: *Stephen McLeod (2017–present) * George B. Bartley (2012–2017) *Andrew P. Schachat (2003–2012) Family of Journals On June 6, 2016 The American Academy of Ophthalmology announced plans to launch ''Ophthalmology Retina'' as an extension of the journal ''Ophthalmology''. This new journal was planned in response to the growing volume of research within the retina subspecialty of ophthalmology, and will be a print and online publication. References External links * Ophthalmology journal ... [...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] |
Optometrist
Optometry is a specialized health care profession that involves examining the eyes and related structures for defects or abnormalities. Optometrists are health care professionals who typically provide comprehensive primary eye care. In the United States and Canada, optometrists are those that hold a Doctor of Optometry degree. They are trained and licensed to practice medicine for eye related conditions, in addition to providing refractive (optical) eye care. In the United Kingdom, optometrists may also practice medicine (and provide refractive care) for eye related conditions. The Doctor of Optometry title can also be used in the UK for those that hold the postgraduate O.D. degree. Within their scope of practice, optometrists are considered physicians and bill medical insurance(s) (example: Medicare) accordingly. Moreover, many participate in academic research for eye related conditions and disease. Optometrists are the only health care professionals with a first professional ... [...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] |
Chromosome
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation. Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). Before this happens, each chromosome is duplicated ( S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now called si ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 5
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. One example would be acute myeloid leukemia (AML). Genes Number of genes The following are some of the gene count estimates of human chromosome 5. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...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] |
