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Primary Congenital Glaucoma
Primary congenital glaucoma is a rare eye condition that is present at birth or develops early in childhood. It occurs due to improper drainage of the eye's fluids, which leads to increased pressure inside the eye, known as intraocular pressure. This elevated pressure can damage the optic nerve which will result in permanent vision loss. It is also known as pediatric glaucoma or childhood glaucoma, and was previously known as trabeculodysgenesis or goniodysgenesis. Types Primary congenital glaucoma is classified into three subtypes: * true congenital glaucoma, which causes signs of increased intraocular pressure within the first month of life, * infantile glaucoma, which presents between one month and three years, and * juvenile glaucoma, which becomes clinically apparent after three years of age and before age 40. Primary juvenile glaucoma Primary juvenile glaucoma becomes apparent between the ages of 3 and 40. It develops due to ocular hypertension and is diagnosed between t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmology
Ophthalmology (, ) is the branch of medicine that deals with the diagnosis, treatment, and surgery of eye diseases and 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 training specific to that field. In the United States, following graduation from medical school, one must complete a four-year residency in ophthalmology to become an ophthalmologist. Following residency, additional specialty training (or fellowship) may be sought in a particular aspect of eye pathology. Ophthalmologists prescribe medications to treat ailments, such as 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 and many inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cornea
The cornea is the transparency (optics), transparent front part of the eyeball which covers the Iris (anatomy), iris, pupil, and Anterior chamber of eyeball, anterior chamber. Along with the anterior chamber and Lens (anatomy), lens, the cornea Refraction, 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 (optics), focus is fixed. Accommodation (eye), 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 "''wikt:kerat-, kerat-''" from the Ancient Greek, Greek word κέρας, ''horn''. Structure The cornea has myelinated, unmyelinated nerve endings sensitive to touch, temperature and chemicals; a to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CYP1B1
Cytochrome P450 1B1 is an enzyme that in humans is encoded by the ''CYP1B1'' gene. Function CYP1B1 belongs to the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum ( ER) and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Despite over 20 years of research on CYP1A1 and CYP1A2, CYP1B1 was not identified and sequenced until 1994. Nucleic and amino acid analysis showed approximately 40% identity with CYP1A1. Despite this similarity, these two enzymes have very different catalytic efficiencies and metabolites when incubated with common substrates, such as retinoic acid and arachidonic acid. Recently CYP1B1 has been shown to be physiologically important in fetal development, since mutations in CYP1B1 are linked w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYOC
Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the ''MYOC'' gene. Mutations in ''MYOC'' are a major cause of glaucoma. Gene location The cytogenetic location of human ''MYOC'' gene is on the long (q) arm of chromosome 1, specifically at position 24.3 (1q24.3). The gene's molecular location starts at 171,635,417 bp and ends at 171,652,63 bp on chromosome 1 (Annotation: GRCh38.p12(assembly). Protein characteristics Myocilin is a protein with a weight of 55 kDa (504 amino acid) and an overall acidic property, the product of the first gene that has been linked to Primary Open Angle Glaucoma (POAG). Protein structure The protein is made up of the two folding domains, the leucine zipper-like domain at the N-terminal and an olfactomedin-like domain at the C-terminal. The domain at the N-terminal is known to have 77.6% homology to the myosin heavy chain of ''Dictyostelium discoideum'' and 2 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Weill–Marchesani Syndrome
Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866–1952) and Oswald Marchesani (1900–1952) who first described it in 1932 and 1939, respectively. The eye manifestations typically include unusually small, round lenses of the eyes (microspherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Weill–Marchesani syndrome may have autosomal recessive inheritance involving the ''ADAMTS10'' gene, or autosomal dominant inheritance involving the ''FBN1'' gene. In some cases there is no association with either of these genes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peters-plus Syndrome
Peters-plus syndrome or Krause–Kivlin syndrome is a hereditary syndrome defined by Peters' anomaly, dwarfism and intellectual disability. Signs and symptoms Features of this syndrome include Peters' anomaly, corneal opacity, central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea. Craniofacial abnormalities commonly seen in patients with PPS include hypertelorism, ear malformations, micrognathia, round face and broad neck, and cleft lip and palate. Infants are commonly born small for gestational age and have delayed growth. It is associated with short limb dwarfism and mild to severe intellectual disability and autism spectrum disorder. Cause The pattern of inheritance of Peters-plus is autosomal recessive, where both parents are heterozygous they can produce a child with the syndrome. The B3GALTL (now called B3GLCT) gene codes for the enzyme beta 3-glucosyltransferase (B3Glc-T). The beta 3-glucosyltransferase enzyme i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Axenfeld Syndrome
Axenfeld or Aksenfeld may refer to: * Israel Aksenfeld (aka Israel Axenfeld / Yisroel Aksenfeld, 1787-1866), a German writer * Karl Theodor Paul Polykarpus Axenfeld (1867-1930), a German ophthalmologist * Karl Theodor Georg Axenfeld (1869-1924), a German superintendent of the Kurmark The German term ''Kurmark'' (archaic ''Churmark'', "Electoral March") referred to the Imperial State held by the margraves of Brandenburg, who had been awarded the electoral (''Kur'') dignity by the Golden Bull of 1356. In early modern times, '' ... * Edith Picht-Axenfeld (1914-2001), a German pianist and harpsichordist * Morax-Axenfeld diplobacilli, a bacterium * Axenfeld syndrome, a rare autosomal dominant disorder {{disamb ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myocilin
Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the ''MYOC'' gene. Mutations in ''MYOC'' are a major cause of glaucoma. Gene location The cytogenetic location of human ''MYOC'' gene is on the long (q) arm of chromosome 1, specifically at position 24.3 (1q24.3). The gene's molecular location starts at 171,635,417 bp and ends at 171,652,63 bp on chromosome 1 (Annotation: GRCh38.p12(assembly). Protein characteristics Myocilin is a protein with a weight of 55 kDa (504 amino acid) and an overall acidic property, the product of the first gene that has been linked to Primary Open Angle Glaucoma (POAG). Protein structure The protein is made up of the two folding domains, the leucine zipper-like domain at the N-terminal and an olfactomedin-like domain at the C-terminal. The domain at the N-terminal is known to have 77.6% homology to the myosin heavy chain of ''Dictyostelium discoideum'' and 25 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclophotocoagulation
Cyclodestruction or cycloablation is a surgical procedure done in management of glaucoma. Cyclodestruction reduces intraocular pressure (IOP) of the eye by decreasing production of aqueous humor by the destruction of ciliary body. Until the development of safer and less destructive techniques like micropulse diode cyclophotocoagulation and endocyclophotocoagulation, cyclodestructive surgeries were mainly done in refractory glaucoma, or advanced glaucomatous eyes with poor visual prognosis. Types Cyclodestruction may be done by using diathermy, penetrating cyclodiathermy, cryotherapy, ultrasound, laser or by surgical excision. Cyclophotocoagulation Cyclophotocoagulation (CPC), the most common cyclodestructive procedure is done using laser beam of different wavelengths. Ruby laser (693 nm wavelength), Nd:YAG laser (1064 nm wavelength) or diode laser (810 nm wavelength) can be used to perform CPC. Commomon cyclophotocoagulation techniques include transscleral cyclopho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Megalocornea
Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching or exceeding 13 mm. It is thought to have two subforms, one with autosomal inheritance and the other X-linked (Xq21.3-q22). The X-linked form is caused by a mutation in a gene '' CHRDL1'' which encodes Chordin-like 1 protein, also its more common and males generally constitute 90% of cases. It may be associated with Alport syndrome, Craniosynostosis, Dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, Mucolipidosis, Frank–ter Haar syndrome, Crouzon syndrome, Megalocornea mental retardation syndrome, etc. Clinical features Eyes are usually highly myopic. There may be 'with the rule' astigmatism. Lens may be luxated due to zonular stretching.In rare cases, it might be associated with intellectual disabilities. References External links Megalocornea- eMedicine eMedicine is an online clinical medical knowledge base founded in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corneal Opacity
Corneal opacification is a term used when the human cornea loses its transparency. The term corneal opacity is used particularly for the loss of transparency of cornea due to scarring. Transparency of the cornea is dependent on the uniform diameter and the regular spacing and arrangement of the collagen fibrils within the Stroma of cornea, stroma. Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. The term corneal blindness is commonly used to describe blindness due to corneal opacity. Keratoplasty also known as corneal transplantation is the main treatment option for visual improvement in corneal opacity. Other treatments which may improve visual outcome includes optical iridectomy, phototherapeutic keratectomy and keratoprosthesises. Corneal tattooing may be used for improving the cosmetic appearance of the opaque eye. Types Depending on the density, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
