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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.
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]
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]
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.
This is a shortened version of the sixth chapter of the ICD-9: Diseases of the Nervous System and Sense Organs.It covers ICD codes 320 to 389.The full chapter can be found on pages 215 to 258 of Volume 1, which contains all (sub)categories of the ICD-9.
(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
Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy, HVR; or hereditary endotheliopathy, retinopathy, nephropathy, and stroke, HERNS) is an inherited condition resulting from a frameshift ...
The individual does not develop cancer at this point because the remaining TSG allele on the other locus is still functioning normally. Second Hit: While the second hit is commonly assumed to be a deletion that results in loss of the remaining functioning TSG allele, the original published mechanism of RB1 LOH was mitotic recombination / gene ...
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