{"orpha":71505,"name":"Cancer-associated retinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAR syndrome","Paraneoplastic retinopathy"],"definition":"A rare paraneoplastic disease of the eye characterized by the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71505/","orphanet_url":"https://www.orpha.net/en/disease/detail/71505","names":{"fr":{"name":"Rétinopathie paranéoplasique","definition":"Maladie paranéoplasique rare de l'oeil caractérisée par la présence d'une tumeur maligne extraoculaire et d'auto-anticorps circulants dirigés contre les protéines rétiniennes."},"de":{"name":"Retinopathie, karzinomassoziierte","synonyms":["CAR","Krebs-assoziierte Retinopathie","Retinopathie, paraneoplastische"],"definition":"Eine seltene paraneoplastische Erkrankung des Auges, die durch das Vorhandensein eines extraokularen Malignoms und zirkulierender Autoantikörper gegen retinale Proteine gekennzeichnet ist."},"es":{"name":"Retinopatía asociada a cancer","synonyms":["Retinopatía paraneoplásica","Síndrome CAR"],"definition":"Es una enfermedad paraneoplásica ocular poco frecuente caracterizada por la presencia de tumores extraoculares malignos y de autoanticuerpos circulantes contra las proteínas de la retina."},"it":{"name":"Retinopatia associata al tumore","synonyms":["Retinopatia paraneoplastica","Sindrome CAR"]},"nl":{"name":"Kankergeassocieerde retinopathie","synonyms":["CAR-syndroom","Paraneoplastische retinopathie"],"definition":"Een zeldzame paraneoplastische aandoening van oog, gekenmerkt door aanwezigheid van extraoculaire maligniteit en circulerende auto-antilichamen tegen retinale eiwitten."},"pt":{"name":"Retinopatia associada a cancro","synonyms":["Retinopatia paraneoplásica","Síndrome CAR"],"definition":"Doença paraneoplásica rara do olho caracterizada pela presença de uma neoplasia extra-ocular e autoanticorpos circulantes contra proteínas da retina."},"pl":{"name":"Retinopatia towarzysząca nowotworom","synonyms":["Retinopatia paraneoplastyczna","Zespół CAR"]},"cs":{"name":"Retinopatie asociovaná s rakovinou","synonyms":["CAR syndrom","Paraneoplastická retinopatie"]},"uk":{"name":"Ретинопатія, асоційована з раком","synonyms":["CAR-синдром","Паранеопластична ретинопатія"],"definition":"A rare paraneoplastic disease of the eye characterized by the presence of extraocular malignancy and circulating autoantibodies against retinal proteins."},"zh":{"name":"肿瘤相关视网膜病","synonyms":["副肿瘤性视网膜病变"]},"tr":{"name":"Kanser-ilişkili retinopati","synonyms":["CAR sendromu","Paraneoplastik retinopati"]}},"xrefs":[{"source":"ICD-10","code":"H35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B71.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1216073790"},{"source":"MONDO","code":"0019112","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D059545","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0730307","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065311","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":36388,"name":"Paraneoplastic neurologic syndrome","classifications":[181]},{"orpha":730376,"name":"Rare acquired isolated progressive generalized retinal disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-27","source":"31670788[PMID]_29784239[PMID]_31712238[PMID]_31742740[PMID]","terms":[{"hpo":"HP:0007830","label":"Adult-onset night blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000882","label":"Anti-recoverin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007984","label":"Electronegative electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033020","label":"Female reproductive system neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006758","label":"Malignant genitourinary tract tumor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007987","label":"Progressive visual field defects","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030357","label":"Small cell lung carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030627","label":"Foveal hyporeflective spaces on macular OCT","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007793","label":"Granular macular appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030528","label":"Paracentral scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100522","label":"Thymoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010784","label":"Uterine neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011531","label":"Vitritis","frequency":"Very rare (<4-1%)","criteria":null}]}}