Fuchs' Endothelial Dystrophy
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Fuchs' Endothelial Dystrophy
Fuchs dystrophy, also referred to as Fuchs endothelial corneal dystrophy (FECD) and Fuchs endothelial dystrophy (FED), is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men. Although early signs of Fuchs dystrophy are sometimes seen in people in their 30s and 40s, the disease rarely affects vision until people reach their 50s and 60s. Signs and symptoms As a progressive, chronic condition, signs and symptoms of Fuchs dystrophy gradually progress over decades of life, starting in middle age. Early symptoms include blurry vision upon wakening which improves during the morning, as fluid retained in the cornea is unable to evaporate through the surface of the eye when the lids are closed overnight. As the disease worsens, the interval of blurry morning vision extends from minutes to hours. In moderate stages of the disease, an increase in guttae and swelling in the cornea can contribute to changes in vision and decreas ...
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Descemet's Membrane
Descemet's membrane ( or the Descemet membrane) is the basement membrane that lies between the corneal proper substance, also called stroma, and the endothelial layer of the cornea. It is composed of different kinds of collagen (Type IV and VIII) than the stroma. The endothelial layer is located at the posterior of the cornea. Descemet's membrane, as the basement membrane for the endothelial layer, is secreted by the single layer of squamous epithelial cells that compose the endothelial layer of the cornea. Structure Its thickness ranges from 3 μm at birth to 8–10 μm in adults.Johnson DH, Bourne WM, Campbell RJ: The ultrastructure of Descemet's membrane. I. Changes with age in normal cornea. Arch Ophthalmol 100:1942, 1982 The corneal endothelium is a single layer of squamous cells covering the surface of the cornea that faces the anterior chamber. Clinical significance Significant damage to the membrane may require a corneal transplant. Damage caused by the hereditary co ...
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Blister
A blister is a small pocket of body fluid (lymph, serum, plasma, blood, or pus) within the upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection. Most blisters are filled with a clear fluid, either serum or plasma. However, blisters can be filled with blood (known as " blood blisters") or with pus (for instance, if they become infected). The word "blister" entered English in the 14th century. It came from the Middle Dutch and was a modification of the Old French , which meant a leprous nodule—a rise in the skin due to leprosy. In dermatology today, the words ''vesicle'' and ''bulla'' refer to blisters of smaller or greater size, respectively. To heal properly, a blister should not be popped unless medically necessary. If popped, the bacteria can spread. The excess skin should not be removed because the skin underneath needs the top layer to heal properly. Causes A blister may form when the skin has ...
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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 conservat ...
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Contact Lens
Contact lenses, or simply contacts, are thin lenses placed directly on the surface of the eyes. Contact lenses are ocular prosthetic devices used by over 150 million people worldwide, and they can be worn to correct vision or for cosmetic or therapeutic reasons. In 2010, the worldwide market for contact lenses was estimated at $6.1 billion, while the US soft lens market was estimated at $2.1 billion.Nichols, Jason J., et a"ANNUAL REPORT: Contact Lenses 2010" January 2011. Multiple analysts estimated that the global market for contact lenses would reach $11.7 billion by 2015. , the average age of contact lens wearers globally was 31 years old, and two-thirds of wearers were female.Morgan, Philip B., et al"International Contact Lens Prescribing in 2010" ''Contact Lens Spectrum''. October 2011. People choose to wear contact lenses for many reasons. Aesthetics and cosmetics are main motivating factors for people who want to avoid wearing glasses or to change the appearance or c ...
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Confocal Microscopy
Confocal microscopy, most frequently confocal laser scanning microscopy (CLSM) or laser confocal scanning microscopy (LCSM), is an optical imaging technique for increasing optical resolution and contrast of a micrograph by means of using a spatial pinhole to block out-of-focus light in image formation. Capturing multiple two-dimensional images at different depths in a sample enables the reconstruction of three-dimensional structures (a process known as optical sectioning) within an object. This technique is used extensively in the scientific and industrial communities and typical applications are in life sciences, semiconductor inspection and materials science. Light travels through the sample under a conventional microscope as far into the specimen as it can penetrate, while a confocal microscope only focuses a smaller beam of light at one narrow depth level at a time. The CLSM achieves a controlled and highly limited depth of field. Basic concept The principle of co ...
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Optical Coherence Tomography
Optical coherence tomography (OCT) is an imaging technique that uses low-coherence light to capture micrometer-resolution, two- and three-dimensional images from within optical scattering media (e.g., biological tissue). It is used for medical imaging and industrial nondestructive testing (NDT). Optical coherence tomography is based on low-coherence interferometry, typically employing near-infrared light. The use of relatively long wavelength light allows it to penetrate into the scattering medium. Confocal microscopy, another optical technique, typically penetrates less deeply into the sample but with higher resolution. Depending on the properties of the light source ( superluminescent diodes, ultrashort pulsed lasers, and supercontinuum lasers have been employed), optical coherence tomography has achieved sub-micrometer resolution (with very wide-spectrum sources emitting over a ~100 nm wavelength range). Optical coherence tomography is one of a class of optical tom ...
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ZEB1
Zinc finger E-box-binding homeobox 1 is a protein that in humans is encoded by the ''ZEB1'' gene. ZEB1 (previously known as TCF8) encodes a zinc finger and homeodomain transcription factor that represses T-lymphocyte-specific IL2 gene expression by binding to a negative regulatory domain 100 nucleotides 5-prime of the IL2 transcription start site. ZEB1 and its mammalian paralog ZEB2 belongs to the Zeb family within the ZF (zinc finger) class of homeodomain transcription factors. ZEB1 protein has 7 zinc fingers and 1 homeodomain. The structure of the homeodomain is shown on the right. Clinical significance Mutations of the gene are linked to posterior polymorphous corneal dystrophy 3. ZEB1 downregulates E-cadherin and induces epithelial to mesenchymal transition in breast and other carcinomas. A recent study suggested its contributing role in lung cancer Lung cancer, also known as lung carcinoma (since about 98–99% of all lung cancers are carcinomas), is a malignant lun ...
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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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OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ...
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Heterogeneous Condition
A heterogeneous medical condition or heterogeneous disease is a medical term referring to a medical condition with several etiologies (root causes), such as hepatitis or diabetes. Medical conditions are normally defined pathologically (i.e. based on the state of the patient), as in "liver inflammation," or clinically (i.e. based on the apparent symptoms of the patient), as in "excessive urination," and not etiologically (i.e. based on the underlying causes of the symptoms), and so it is not unusual for conditions to have multiple etiologies. Heterogeneous conditions are sometimes contrasted with homogeneous conditions, which have the same root cause for all patients in a given group. Heterogeneous conditions are often divided into endotypes based on etiology. Endotype An endotype is a subtype of a condition, which is defined by a distinct functional or pathobiological mechanism. This is distinct from a phenotype, which is any observable characteristic or trait of a disease, such a ...
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Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ...
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COL8A2
Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the ''COL8A2'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... Mutations of the gene are linked to posterior polymorphous dystrophy type 2. References Further reading * * * * * * * * * * * * * * * * Collagens {{gene-1-stub ...
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