Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0406810 (NAME)
 13,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There are multiple possible intraocular manifestations in patients with systemic neoplasms. At first line there are uveal, retinal and vitreous metastases from carcinomas, melanomas and lymphomas. In patients with von Hippel Lindau syndrome or familiar adenomatous polyposis coli (FAP), Gardner or Turcot syndromes, fundus examinations can help in the primary diagnosis and thereby facilitate the early detection of systemic neoplasms such as cerebral and spinal haemangioblastoma, kidney or bowel cancer. Furthermore there are rare ocular paraneoplastic syndromes such as the cancer- or melanoma-associated retinopathies (CAR/MAR), the paraneoplastic optic neuropathy (PON) and the bilateral diffuse melanocytic proliferation (BDUMP) that develop secondary to systemic malignancies and can be the primary manifestation.
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PMID:[Intraocular manifestations of systemic neoplasms]. 2173

Autoimmune retinopathy (AIR) is a rare and still poorly understood immune-mediated disease that may cause inflammation from circulating autoantibodies against the retina. It may be related to history of autoimmune disease in the patient or in a family member or the presence of neoplastic disease in the individual. The disease may be subdivided into paraneoplastic and non-paraneoplastic AIR. When related to melanoma, it is referred to as MAR, and when related to other cancers, it is called CAR. The exact prevalence of AIR is unknown. It mainly affects older adults. Patients present with bilateral and asymmetric scotomas, photopsias, visual field defects, with rapidly progressive visual loss in late onset. In the initial stage, fundus examination is unremarkable, and in late stages, there is limited retinal epitheliopathy and vascular attenuation, with or without optic disc pallor, associated or not with intraocular inflammation and with no evidence of degenerative retinal disease. A clinical investigation with detailed anamnesis and laboratory tests should be performed to search for an associated neoplasm. Ophthalmologic and complementary examinations such as full-field electroretinogram, optical coherence tomography, visual field and fundus autofluorescence, help the diagnosis. Blood tests to search for autoantibodies should be requested. Management consists of prolonged immunosuppression, which may be combined with antioxidant vitamins. In general, the prognosis is uncertain, so the disease still needs to be better understood. More studies should be performed to improve diagnostic measures and define specific management that could preserve or even restore vision.
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PMID:Autoimmune retinopathy: A Review. 2934 Jan 69

Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. They are unrelated to local tumor invasion or metastasis and unexplained by nutritional, metabolic, infectious or iatrogenic causes. The presence of antibodies may aid in the diagnosis of a paraneoplastic syndrome, although this is not an absolute requirement. Chorioretinal involvement is seen in CAR (cancer-associated retinopathy) syndrome, MAR (melanoma-associated retinopathy) syndrome, paraneoplastic vitelliform maculopathy, and bilateral diffuse uveal melanocytic proliferation. Paraneoplastic neurological syndromes with ophthalmologic involvement include optic neuropathy, opsoclonus-myoclonus, Eaton-Lambert myasthenic syndrome, paraneoplastic cerebellar degeneration (PCD) and rhombencephalitis.
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PMID:Paraneoplastic syndromes in ophthalmology. 2978 39