Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 50-year-old man with cancer-associated retinopathy was investigated using light and electron microscopy, immunofluorescence studies, and western blotting. He had visual disturbance, ring-like scotoma, and night blindness bilaterally. There were narrowed retinal arterioles and dilated retinal venules. Oral corticosteroid therapy had positive effects. Immunostaining using the patient's serum revealed a positive reaction in the ganglion cell layer of normal retina. Western blotting showed that the patient's serum antibody reacted with normal retinal proteins of 24 and 48 kDa. Multiple metastases were evident at autopsy.
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PMID:Cancer-associated retinopathy with retinal phlebitis. 811 Jun 75

A patient operated for malignant melanoma developed night blindness and a sensation of shimmering light, strong enough to make him unable to work. Shortly afterwards, melanoma metastases became apparent. A full-field ERG examination showed absence of rod responses but normal cone amplitudes, suggesting a malfunctioning rod system in the retina. The patient was not on chemotherapy. A few similar cases have previously been reported. The disease appears to differ from the cancer-associated retinopathy (CAR) syndrome, which affects mainly the photoreceptor cells.
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PMID:Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy. 824 79

Diode laser photoablation of the retinal periphery is an effective treatment for zone 1 or 2 threshold retinopathy of prematurity. Patients with small cell carcinoma of the lung and cancer-associated retinopathy have immunoreactivity with the 23-kD retinal cancer-associated antigen and a similar antigen is secreted by in vitro propagated cultures of small cell carcinoma of the lung. This cancer-associated autoimmune retinopathy is characterized by rapid visual loss, night blindness, color loss, and reduced electroretinograms. Angioid streaks start as narrow, short discontinuous hypopigmented streaks that enlarge and widen with the end stage being disciform macular degeneration, helicoid peripapillary atrophy, or diffuse choroidal sclerosis. In the setting of neonatal cholestasis, the findings of microcornea, posterior embryotoxon, mosaic iris stromal hypoplasia, anomalous optic discs, and regional peripapillary retinal depigmentation suggest the diagnosis of Alagille syndrome (arteriohepatic dysplasia).
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PMID:Ocular manifestations of various systemic disorders. 1015 Aug 22

A 70-year-old woman with small-cell lung carcinoma (c-T4N2M0) was treated by six courses of combination chemotherapy (carboplatin and etoposide). After two weeks, she complained of a sense of darkness and night blindness. A Western blot analysis showed that the patient's serum bound with the recombinant 23-kDa retinal cancer-associated retinopathy (CAR) antigen at 1:1,000 dilution. Her visual acuity became so poor that she could only recognise a hand motion at 50 cm despite treatment with corticosteroids and combination chemotherapy. The patient was diagnosed as having a rare type of CAR because CAR is usually found before the diagnosis of primary cancer.
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PMID:Cancer-associated retinopathy during treatment for small-cell lung carcinoma. 1043 68

Retinitis pigmentosa (RP) is an inherited retinal degeneration characterized by nyctalopia, ring scotoma, and bone-spicule pigmentation of the retina. So far, no effective therapy has been found for RP. As a possible molecular etiology of RP, retina-specific gene deficits are most likely involved, but little has been identified in terms of intracellular mechanisms leading to retinal photoreceptor cell death at post-translational levels. In order to find an effective therapy for RP, we must look for underlying common mechanisms that are responsible for the development of RP, instead of designing a specific therapy for each of the RP types with different causes. Therefore, in the present study, several animal models with different causes of RP were studied, including (1)Royal College of Surgeons (RCS) rats with a deficit of retinal pigment epithelium (RPE) function caused by rhodopsin mutation; (2) P23H rats, (3) S334ter rats, (4) photo stress rats, (5) retinal degeneration (rd) mice with a deficit of phosphodiesterase(PDE) function; and (6) cancer-associated retinopathy (CAR) model rats with a deficit of recoverin-dependent photoreceptor adaptation function. In each of these models, the following assessments were made in order to elucidate common pathological mechanisms among the models: (1) retinal function assessed by electroretinogram (ERG), (2) retinal morphology, (3) retinoid analysis, (4) rhodopsin regeneration, (5) rhodopsin phosphorylation and dephosphorylation, and (6) cytosolic cGMP levels. We found that unregulated photoreceptor adaptation processes caused by an imbalance of rhodopsin phosphorylation and dephosphorylation caused retinal dysfunction leading to photoreceptor cell death. As possible candidate drugs for normalizing these retinal dysfunctions and stopping further retinal degeneration, nilvadipine, a Ca channel blocker, retinoid derivatives, and anthocyanine were chosen and tested to determine their effect on the above animal models with retinal degeneration. Nilvadipine showed beneficial effects against retinal degeneration in all models tested, but retinoid derivatives and anthocyanine showed these beneficial effects in only some models. Thus our present data allowed us to test the effectiveness of nilvadipine in the treatment of human RP patients.
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PMID:[New drug therapy for retinal degeneration]. 1824 May 99

Traditionally, the paraneoplastic retinopathies have been classified into two groups: melanoma-associated retinopathy (MAR) and cancer-associated retinopathy. MAR occurs in individuals with metastatic cutaneous or uveal melanoma and is characterized by nyctalopia, photopsias, and variable vision loss. In most cases, the fundus is essentially normal in appearance. More recently, there have been multiple reports of a MAR-like retinopathy with associated detachments of the retinal pigment epithelium and neurosensory retina. Such a clinical presentation has been termed paraneoplastic vitelliform retinopathy. We describe an 80-year-old man with metastatic cutaneous melanoma who developed paraneoplastic vitelliform retinopathy. For the first time, histopathology from enucleation specimens provides a clinicopathologic disease correlation with focal abnormalities in the inner nuclear and outer plexiform layers.
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PMID:Paraneoplastic vitelliform retinopathy: clinicopathologic correlation and review of the literature. 2278 77

Paraneoplastic retinopathy (PR) mainly includes cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR). Emerging evidences indicate that PR is mediated by immune cross-reaction between circulating antibodies originally generated against remote tumor with antigens expressed on retinal neurons. It is believed that CAR is a consequence of the autoantibodies against the photoreceptors and MAR is the autoantibodies against the retinal ON-bipolar cells. Recoverin autoantibody in serum is closely related to the pathogenesis of CAR, and the inactivation of TRPM1 channel plays a key role in dysfunction of ON-bipolar cells in MAR. PR is characterized by visual dysfunctions, including decreased vision, night blindness, shimmering or flickering, and abnormalities of symbolic electroretinogram appearances. Based on the history of tumors, ophthalmic symptoms, and existence of circulating antibodies, it is easy to make a diagnosis of PR. Immunosuppressants and glucocorticoids may improve the visual dysfunctions in PR subjects.
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PMID:[Paraneoplastic retinopathy]. 2294 72

The purpose of this paper is to report choroidal atrophy in a patient with cancer-associated retinopathy who had autoantibodies against the transient receptor potential cation channel, subfamily M, member 1 (TRPM1). A 69-year-old man visited our clinic in July 2010 with complaints of blurred vision and night blindness in both eyes. The full-field electroretinograms were negative type, indicating ON bipolar cell dysfunction. General physical examination revealed small cell carcinoma of the lung, and Western blot of the patient's serum showed autoantibodies against TRPM1. We diagnosed this patient with cancer-associated retinopathy and retinal ON bipolar dysfunction due to anti-TRPM1 autoantibody. We followed him for more than 2 years from the initial visit and his symptoms have not changed. However, consistent with the choroidal hypopigmentation of the fundus, spectral domain optical coherence tomography showed a decrease in choroidal thickness of about one third over a 2-year follow-up period. We suggest that this case of gradually progressive choroidal atrophy was caused by the autoantibody against TRPM1 directly, because TRPM1 is expressed not only on ON bipolar cells but also on melanocytes. These findings indicate that we should be aware of choroidal thickness in patients with paraneoplastic retinopathy who have retinal ON bipolar dysfunction with the anti-TRPM1 antibody.
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PMID:Choroidal atrophy in a patient with paraneoplastic retinopathy and anti-TRPM1 antibody. 2452 77