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Corneal Opacification
The human cornea is a transparent membrane which allows light to pass through it. The word corneal opacification literally means loss of normal transparency of cornea. 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. 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. Types Depending on the density, corneal opacity is graded as nebular, macular and leucomatous. Nebular corneal opacity Nebular corneal opacity is a faint opacity which results due to superficial scars involving Bowman's layer and superficial stroma. A nebular corneal opacity allows the details of the ir ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmology
Ophthalmology ( ) is a 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 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 and many include research as part ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peters Anomaly
Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis (ASD), is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity. Peters' (frequently misspelled as Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber. Pathophysiology Several gene mutations have been identified underlying these anomalies, with the majority of ASD genes encoding transcriptional regulators. In this review, the role of the ASD genes, ''PITX2'' and ''FOXC1'', is considered in relation to the embryology of the anterior segment, the biochemical function of these proteins, and their role in development and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trisomy 8
Trisomy 8 causes Warkany syndrome 2, a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism. Characteristics Complete trisomy 8 causes severe effects on the developing fetus and can be a cause of miscarriage. Complete trisomy 8 is usually an early lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. Individuals with trisomy 8 mosaicism are more likely to survive into childhood and adulthood, and exhibit a characteristic and recognizable pattern of developmental abnormalities. Common findings include stunted psychomotor development, moderate to severe intellectual disability, variable growth patterns which can result in either abnormally short or tall stature, an expressionless face, and many musculoskeletal, visceral, and eye abnormalities, as well as other a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Steroid Sulfatase
Steroid sulfatase (STS), or steryl-sulfatase (EC 3.1.6.2), formerly known as arylsulfatase C, is a sulfatase enzyme involved in the metabolism of steroids. It is encoded by the ''STS'' gene. Reactions This enzyme catalysis, catalyses the following chemical reaction : 3β-hydroxyandrost-5-en-17-one 3-sulfate + H2O \rightleftharpoons 3β-hydroxyandrost-5-en-17-one + sulfate Also acts on some related steryl sulfates. Function The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to the free steroid. This includes DHEA sulfate, estrone sulfate, pregnenolone sulfate, and cholesterol sulfate, all to their unconjugated forms (DHEA, estrone, pregnenolone, and cholesterol, respectively). The encoded protein is found in the endoplasmic reticulum, where it is present as a homodimer. Clinical significance A congenital deficiency in the enzyme is associated with X-linked ichthyosis, a scaly-skin disease affecting roughly 1 in every 2,000 to 6,000 mal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Ichthyosis
X-linked ichthyosis (abbreviated ''XLI'') is a skin condition caused by the genetic disorder, hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the ''STS'' gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms.: Treatment Section The term is from the Ancient Greek 'ichthys' meaning 'fish'. Signs and symptoms The major symptoms of XLI include scaling of the skin, particularly on the neck, trunk, and lower extremities. The extensor surfaces are typically the most severely affected areas. The >4 mm diameter scales adhere to the underlying skin and can be dark brown or gray in color. Symptoms may subside during the summer. Associated medical conditions Aside from the skin scaling, XLI is not typically associated with other major medical problem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystinosis
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. It is a genetic disorder that follows an autosomal recessive inheritance pattern. It is a rare autosomal recessive disorder resulting from accumulation of free cystine in lysosomes, eventually leading to intracellular crystal formation throughout the body. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules is impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates. Cystinosis was the first documented genetic disease belonging to the group of lysosomal storage disease disorders.Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol 2012;28:51–9. Cystinosis is caused by mutations in the '' CTNS'' gene that code ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerocornea
Sclerocornea is a congenital anomaly of the eye in which the 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 ... blends with sclera, having no clear-cut boundary. The extent of the resulting opacity varies from peripheral to total (''sclerocornea totalis''). The severe form is thought to be inherited in an autosomal recessive manner, but there may be another, milder form that is expressed in a dominant fashion. In some cases the patients also have abnormalities beyond the eye ( systemic), such as limb deformities and craniofacial and genitourinary defects. According to one tissue analysis performed after corneal transplantation, the sulfation pattern of keratan sulfate proteoglycans in the affected area is typical for corneal rather than scleral tissue. Sclerocornea may ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corneal Dystrophy-perceptive Deafness Syndrome
Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome, is a rare genetic disorder characterized by congenital hereditary corneal dystrophy that occurs alongside progressive hearing loss of post-lingual onset. Signs and symptoms The following is a list of the symptoms people with this condition exhibit: * Corneal dystrophy * Clouding of the cornea * Nystagmus * Blurry vision * Generalized vision impairment * Progressive post-lingual hearing loss The latter usually appears between the ages of 20 and 30 years old. Complications The hearing loss and visual impairment associated with this condition can cause difficulties with living. Treatment Although this condition has no cure, it can be treated. Hearing loss * Hearing aids * Cochlear implant Corneal dystrophy * Contact lenses * Corneal transplant Diagnosis A diagnosis can be made by general symptom examination and with both ophthalmologic and audiometric studies. Genetics This co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucous Membrane Pemphigoid
Mucous membrane pemphigoid is a rare chronic autoimmune subepithelial blistering disease characterized by erosive lesions of the mucous membranes and skin. It is one of the pemphigoid diseases that can result in scarring. Signs and symptoms The autoimmune reaction most commonly affects the oral mucosa in the mouth, causing lesions in the gums (gingiva), known as desquamative gingivitis. More severe cases can also affect areas of mucous membrane elsewhere in the body, such as the sinuses, genitals, anus, and cornea. When the cornea of the eye is affected, repeated scarring may result in blindness. ''Brunsting–Perry cicatricial pemphigoid'' is a rare variant of mucous membrane pemphigoid involving the scalp and the neck without mucosal involvement. It is proposed by some authors that this be called a variant of epidermolysis bullosa acquisita. Nikolsky's sign (gentle lateral pressure) on unaffected mucosa or skin raises a bulla. If no lesions are present on examination it ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Onchocerciasis
Onchocerciasis, also known as river blindness, is a disease caused by infection with the parasitic worm ''Onchocerca volvulus''. Symptoms include severe itching, bumps under the skin, and blindness. It is the second-most common cause of blindness due to infection, after trachoma. The parasite worm is spread by the bites of a black fly of the ''Simulium'' type. Usually, many bites are required before infection occurs. These flies live near rivers, hence the common name of the disease. Once inside a person, the worms create larvae that make their way out to the skin, where they can infect the next black fly that bites the person. There are a number of ways to make the diagnosis, including: placing a biopsy of the skin in normal saline and watching for the larva to come out; looking in the eye for larvae; and looking within the bumps under the skin for adult worms. A vaccine against the disease does not exist. Prevention is by avoiding being bitten by flies. This may include the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trachoma
Trachoma is an infectious disease caused by bacterium ''Chlamydia trachomatis''. The infection causes a roughening of the inner surface of the eyelids. This roughening can lead to pain in the eyes, breakdown of the outer surface or cornea of the eyes, and eventual blindness. Untreated, repeated trachoma infections can result in a form of permanent blindness when the eyelids turn inward. The bacteria that cause the disease can be spread by both direct and indirect contact with an affected person's eyes or nose. Indirect contact includes through clothing or flies that have come into contact with an affected person's eyes or nose. Children spread the disease more often than adults. Poor sanitation, crowded living conditions, and not enough clean water and toilets also increase spread. Efforts to prevent the disease include improving access to clean water and treatment with antibiotics to decrease the number of people infected with the bacterium. This may include treating, all ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vitamin A Deficiency
Vitamin A deficiency (VAD) or hypovitaminosis A is a lack of vitamin A in blood and tissues. It is common in poorer countries, especially among children and women of reproductive age, but is rarely seen in more developed countries. Nyctalopia (night blindness) is one of the first signs of VAD, as the vitamin has a major role in phototransduction. Xerophthalmia, keratomalacia, and complete blindness can follow if the deficiency is more severe. Vitamin A deficiency is the world's leading cause of preventable childhood blindness, and is critical to achieving Millennium Development Goal 4 to reduce child mortality. About 250,000 to 500,000 malnourished children in the developing world go blind each year from a deficiency of vitamin A, around half of whom die within a year of becoming blind. The United Nations Special Session on Children in 2002 set a goal of the elimination of VAD by 2010. The prevalence of night blindness due to VAD is also high among pregnant women in many develop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
