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Congenital Cataract
Congenital cataracts are a lens opacity that is present at birth. Congenital cataracts occur in a broad range of severity. Some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment. Congenital cataracts may be unilateral or bilateral. They can be classified by morphology, presumed or defined genetic cause, presence of specific metabolic disorders, or associated ocular anomalies or systemic findings. Treatment options depend on the severity of the condition. For children under the age of two years old whose vision is affected by the cataracts in both eyes, surgical options include intraocular lens implantation or a lensectomy. Congenital cataracts are considered to be a significant cause of childhood blindness. This condition is considered 'treatable' with early intervention and compared to other types of childhood visual loss problems, however, in parts of the world where treatment options are not available such as som ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Rubella Syndrome
Congenital rubella syndrome (CRS) occurs when a human fetus is infected with the rubella virus (German measles) via maternal-fetal transmission and develops birth defects. The most common congenital defects affect the ophthalmologic, cardiac, auditory, and neurologic systems. Rubella infection in pregnancy can result in various outcomes ranging from asymptomatic infection to congenital defects to miscarriage and fetal death. If infection occurs 0–11 weeks after conception, the infant has a 90% risk of being affected. If the infection occurs 12–20 weeks after conception, the risk is 20%. Infants are not generally affected if rubella is contracted during the third trimester. Diagnosis of congenital rubella syndrome is made through a series of clinical and laboratory findings and management is based on the infant's clinical presentation. Maintaining rubella outbreak control via vaccination is essential in preventing congenital rubella infection and congenital rubella syndrome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoparathyroidism
Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone (PTH). This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. It is a very rare disease. The condition can be inherited, but it is also encountered after thyroid or parathyroid gland surgery, and it can be caused by immune system-related damage as well as a number of rarer causes. The diagnosis is made with blood tests, and other investigations such as genetic testing depending on the results. The primary treatment of hypoparathyroidism is calcium and vitamin D supplementation. Calcium replacement or vitamin D can ameliorate the symptoms but can increase the risk of kidney stones and chronic kidney disease. Additionally, medications such as recombinant human parathyroid hormone or teriparatide may be given by injection to replace the missing hormone. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lenticonus
Lenticonus (/len·ti·co·nus/ (len″tĭ-ko´nus)) ens + L. conus, coneis a rare congenital anomaly of the eye characterized by a conical protrusion on the crystalline lens capsule and the underlying cortex. It can reach a diameter of 2 to 7 mm. The conus may occur anteriorly or posteriorly. If the bulging is spherical, instead of conical, the condition is referred to as ''lentiglobus''. It produces a decrease in visual acuity and irregular refraction that cannot be corrected by either spectacle or contact lenses. Biomicroscopically ''lenticonus'' is characterized by a transparent, localized, sharply demarcated conical projection of the lens capsule and cortex, usually axial in localization. In an early stage, retro-illumination shows an oil droplet configuration. Using a narrow slit, the image of a conus is observed. In a more advanced stage associated subcapsular and cortical opacities appear. Retinoscopically the oil droplet produces a pathognomonic scissors movement of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Persistent Fetal Vasculature
Persistent fetal vasculature (PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully developed. Defects which arise from this lack of vascular regression are diverse; as a result, the presentation, symptoms, and prognosis of affected patients vary widely, ranging from clinical insignificance to irreversible blindness. The underlying structural causes of PFV are considered to be relatively common, and the vast majority of cases do not warrant additional intervention. When symptoms do manifest, however, they are often significant, causing detrimental and irreversible visual impairment. Persistent fetal vasculature heightens the lifelong risk of glaucoma, cataracts, intraocular hemorr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Segment Dysgenesis
Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis, 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 anterior segment dysgenesis genes encoding transcriptional regulators. In this review, the role of the anterior segment dysgenesis genes '' PITX2'' and '' FOXC1'' is considered in relation to the embryology of the anterior segment, the biochemical function of these pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aniridia
Aniridia is a condition characterized by the absence or near absence of the iris, the colored, muscular ring in the eye that controls the size of the pupil and regulates the amount of light entering the eye. This absence results in a primarily black appearance of the central eye. Aniridia can be congenital, typically affecting both eyes, or caused by a penetrant injury. Congenital aniridia is not simply an iris defect but a more complex condition affecting multiple parts of the eye, with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with several other ocular complications, including nystagmus, amblyopia, buphthalmos, and cataract. In some cases, aniridia occurs as part of a broader syndrome, like WAGR syndrome ( kidney nephroblastoma, genitourinary anomalies and intellectual disability) or Gillespie syndrome ( cerebellar ataxia). PAX6 The PAX6 gene, located within the AN2 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Herpes Simplex
Herpes simplex, often known simply as herpes, is a viral disease, viral infection caused by the herpes simplex virus. Herpes infections are categorized by the area of the body that is infected. The two major types of herpes are Cold sore, oral herpes and genital herpes, though Herpes simplex#Types of herpes, other forms also exist. Oral herpes involves the face or mouth. It may result in small blisters in groups, often called cold sores or fever blisters, or may just cause a sore throat. Genital herpes involves the genitalia. It may have minimal symptoms or form blisters that break open and result in small ulcers. These typically heal over two to four weeks. Tingling or shooting pains may occur before the blisters appear. Herpes cycles between periods of active disease followed by periods without symptoms. The first episode is often more severe and may be associated with fever, muscle pains, swollen lymph nodes and headaches. Over time, episodes of active disease decrease in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Parvovirus B19
Parvovirus B19, also called B19 virus (B19V), Human parvovirus B19, or sometimes erythrovirus B19, is a human virus in the family ''Parvoviridae'', genus ''Erythroparvovirus''. It measures only 23–26 nm in diameter. The virus is assigned to the species ''Erythroparvovirus primate1''. The name is derived from Latin ''parvum'', meaning small, reflecting the fact that B19 ranks among the smallest DNA viruses. B19 virus is most known for causing disease in the pediatric population; however, it can also affect adults. It is the classic cause of the childhood rash called fifth disease or erythema infectiosum, or "slapped face syndrome". The name comes from it being the fifth in a list of historical classifications of common skin rash illnesses in children. The virus was discovered by chance in 1975 by Australian virologist Yvonne Cossart. The name B19 originated from the coding of a serum sample, number 19 in panel B. Virology Erythroviruses belong to the ''Parvoviridae'' fa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syphilis
Syphilis () is a sexually transmitted infection caused by the bacterium ''Treponema pallidum'' subspecies ''pallidum''. The signs and symptoms depend on the stage it presents: primary, secondary, latent syphilis, latent or tertiary. The primary stage classically presents with a single chancre (a firm, painless, non-itchy Ulcer_(dermatology), skin ulceration usually between 1 cm and 2 cm in diameter), though there may be multiple sores. In secondary syphilis, a diffuse rash occurs, which frequently involves the palms of the hands and soles of the feet. There may also be sores in the mouth or vagina. Latent syphilis has no symptoms and can last years. In tertiary syphilis, there are Gumma (pathology), gummas (soft, non-cancerous growths), neurological problems, or heart symptoms. Syphilis has been known as "The Great Imitator, the great imitator", because it may cause symptoms similar to many other diseases. Syphilis is most commonly spread through human sexual activi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coxsackievirus
Coxsackieviruses are a few related enteroviruses that belong to the ''Picornaviridae'' family of viral envelope, nonenveloped, linear, positive-sense single-stranded RNA viruses, as well as its genus ''Enterovirus'', which also includes poliovirus and echovirus. Enteroviruses are among the most common and important human pathogens, and ordinarily its members are transmitted by the fecal–oral route. Coxsackieviruses share many characteristics with poliovirus. With control of poliovirus infections in much of the world, more attention has been focused on understanding the nonpolio enteroviruses such as coxsackievirus. Coxsackieviruses are among the leading causes of aseptic meningitis (the other usual suspects being echovirus and mumps virus). The entry of coxsackievirus into cells, especially endothelial cells, is mediated by coxsackievirus and adenovirus receptor. Groups Coxsackieviruses are divided into Coxsackie A virus, group A and Coxsackie B virus, group B viruses based ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
