{"orpha":209943,"name":"IRVAN syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome"],"definition":"A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209943/","orphanet_url":"https://www.orpha.net/en/disease/detail/209943","names":{"fr":{"name":"Syndrome IRVAN","synonyms":["Syndrome de vascularite rétinienne idiopathique-anévrismes-neurorétinite"],"definition":"Vasculopathie rétinienne rare caractérisée par une vascularite rétinienne idiopathique, des dilatations anévrismales au niveau des bifurcations artériolaires et une neurorétinite, progressant en l'absence de traitement vers une non-perfusion capillaire périphérique, une néovascularisation rétinienne et une exsudation maculaire, ce qui entraîne une perte de vision bilatérale sévère."},"de":{"name":"IRVAN-Syndrom","synonyms":["Idiopathische retinale Vaskulitis-Aneurysmen-Neuroretinitis-Syndrom"]},"es":{"name":"Síndrome IRVAN","synonyms":["Síndrome de vasculitis retiniana idiopática-aneurismas-neurorretinitis"],"definition":"Es una enfermedad por vasculopatía retiniana poco frecuente caracterizada por vasculitis retiniana idiopática (IRV), dilatación aneurismática (A) en las bifurcaciones arteriolares y neurorretinitis (N), que, en ausencia de tratamiento, evoluciona hasta impedir la perfusión capilar periférica provocando neovascularización retiniana y edema macular, lo que conlleva una pérdida grave de la visión bilateral."},"it":{"name":"Sindrome IRVAN","synonyms":["Sindrome vasculite retinica idiopatica-aneurismi-neuroretinite"],"definition":"È una vasculopatia retinica rara, caratterizzata da vasculite retinica idiopatica (IRV), dilatazioni aneurismatiche (A) alle biforcazioni delle arteriole e neuroretinite (N). Se non trattata, progredisce verso la mancata perfusione capillare periferica, la neovascolarizzazione della retina e l'essudazione maculare, che esitano nella perdita bilaterale della vista."},"nl":{"name":"IRVAN-syndroom","synonyms":["Idiopathisch retinale vasculitis - aneurysma's - neuroretinitis-syndroom"],"definition":"Een zeldzame, retinale vasculopathie die gekarakteriseerd wordt door idiopathische retinale vasculitis (IRV), aneurysmata (A) ter hoogte van splitsende arteriolen, en neuroretinitis (N) die bij uitblijven van een behandeling evolueert tot perifere capillaire non-perfusie, retinale neovascularisatie, en exsudaten in de macula, wat leidt tot ernstig en bilateraal verlies van gezichtsvermogen."},"pt":{"name":"Síndrome IRVAN"},"pl":{"name":"Zespół IRVAN","synonyms":["Zespół idiopatycznego zapalenia naczyń siatkówki, tętniaków i zapalenia nerwu wzrokowego i siatkówki"]},"cs":{"name":"IRVAN syndrom","synonyms":["Syndrom zahrnující idiopatickou retinální vaskulitidu, aneuryzma a neuroretinitidu"]},"uk":{"name":"Синдром IRVAN","synonyms":["Ідіопатичний васкуліт сітківки - аневризми - синдром нейроретиніту"],"definition":"A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss."},"zh":{"name":"特发性视网膜血管炎、动脉瘤和视神经视网膜炎综合征","synonyms":["特发性视网膜血管炎、动脉瘤和视神经视网膜炎综合征"],"definition":"特发性视网膜血管炎、动脉瘤和视神经视网膜炎综合征是一种罕见的视网膜血管病，其主要临床表现为特发性视网膜血管炎（IRV）、动脉分叉处的动脉瘤扩张（A）和神经性视网膜炎（N），如果不治疗，可发展为外周毛细血管灌注不足、视网膜新生血管形成和黄斑渗出，导致严重的双侧视力丧失。"},"tr":{"name":"IRVAN sendromu","synonyms":["İdiyopatik retinal vaskülit-anevrizmalar-nöroretinit sendromu"]}},"xrefs":[{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"498393228"},{"source":"MONDO","code":"0016205","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3665812","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12868","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073929","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-10","source":null,"terms":[{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040049","label":"Macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001147","label":"Retinal exudate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007917","label":"Tractional retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}