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Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer.Retinoschisis can be divided into degenerative forms which are very common and almost exclusively involve the peripheral retina and hereditary forms which are rare and involve the central retina and sometimes the peripheral retina.
Retinoschisin also known as X-linked juvenile retinoschisis protein is a lectin [5] [6] that in humans is encoded by the RS1 gene. [7]It is a soluble, cell-surface protein that plays an important role in the maintenance of the retina where it is expressed and secreted by retinal bipolar cells and photoreceptors, [8] [9] as well as in the pineal gland. [10]
Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons [1] is a human, adult onset, autosomal dominant genetic disorder caused by a mutation in the folliculin (FLCN) gene.
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Cancer Associated Retinopathy (CAR) also known as Carcinoma Associated Retinopathy is an immune-mediated disease affecting the retina of the eye. It is a paraneoplastic type autoimmune retinopathy associated with cancer that can cause blindness. It can be seen in association with various types of cancers.
Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. [5] Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, [6] the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. [7]
(H33.1) Retinoschisis and retinal cysts — the retina separates into several layers and may detach Cyst of ora serrata; Parasitic cyst of retina NOS; Pseudocyst of retina Excludes: congenital retinoschisis (Q14.1) microcystoid degeneration of retina (H35.4) (H33.2) Serous retinal detachment Retinal detachment: NOS; without retinal break
Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, [2] the light-detecting tissue of the eye. [3] It is the most common primary malignant intraocular cancer in children, and 80% of retinoblastoma cases are first detected in those under 3 years old.