{"orpha":353334,"name":"Congenital retinal arteriovenous communication","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital arteriovenous anastomoses of the retina","Congenital arteriovenous communication of the retina","Congenital retinal arteriovenous anastomoses"],"definition":"A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353334/","orphanet_url":"https://www.orpha.net/en/disease/detail/353334","names":{"fr":{"name":"Communication artérioveineuse rétinienne congénitale","synonyms":["Anastomose artérioveineuse congénitale de la rétine","Anastomose artérioveineuse rétinienne congénitale","Communication artérioveineuse congénitale de la rétine"],"definition":"Malformation neurovasculaire rare, caractérisée par une communication directe unilatérale entre le système artériel et le système veineux de la rétine via des vaisseaux anormaux et élargis, sans capillaires interposés. La maladie touche le plus souvent le système vasculaire inférotemporal. Les patients peuvent être asymptomatiques ou manifester des degrés variables de perte visuelle. Les complications vasculaires locales sont des occlusions vasculaires ou les hémorragies rétiniennes ou vitréennes. La malformation peut être isolée ou faire partie du syndrome de Wyburn-Mason, qui se caractérise par la présence des malformations artério-veineuses intracrâniennes (généralement ipsilatérales)."},"de":{"name":"Retinale arteriovenöse Kommunikation, kongenitale","synonyms":["Anastomose, arteriovenöse retinale, kongenitale"],"definition":"Eine seltene neurovaskuläre Fehlbildung, die durch eine einseitige, direkte Verbindung zwischen dem arteriellen und dem venösen System in der Netzhaut über abnorme, vergrößerte Gefäße, aber ohne dazwischenliegende Kapillaren gekennzeichnet ist. Am häufigsten ist das inferotemporale Gefäßsystem betroffen. Die Patienten können asymptomatisch sein oder einen unterschiedlich starken Sehverlust aufweisen. Zu den lokalen Gefäßkomplikationen gehören Gefäßverschlüsse oder Netzhaut- oder Glaskörperblutungen. Die Anomalie kann isoliert oder als Teil des Wyburn-Mason-Syndroms auftreten, bei dem intrakranielle (gewöhnlich ipsilaterale) arteriovenöse Fehlbildungen vorhanden sind."},"es":{"name":"Comunicación arteriovenosa retiniana congénita","synonyms":["Anastomosis arteriovenosa congénita de la retina","Anastomosis arteriovenosa retiniana congénita","Comunicación arteriovenosa congénita de la retina"],"definition":"Es una malformación neurovascular poco frecuente caracterizada por una comunicación directa unilateral entre el sistema arterial y venoso en la retina a través de vasos anómalos y agrandados, pero sin lecho capilar interpuesto. La vascularización inferotemporal es la más comúnmente afectada. Los pacientes pueden permanecer asintomáticos o presentar grados variables de pérdida visual. Las complicaciones vasculares locales incluyen oclusiones vasculares o hemorragias retinianas o vítreas. La anomalía puede ocurrir de forma aislada o como parte del síndrome de Wyburn-Mason, que asocia malformaciones arteriovenosas intracraneales (generalmente ipsilaterales)."},"it":{"name":"Comunicazione arterovenosa retinica congenita","synonyms":["Anastomosi arterovenosa congenita della retina","Anastomosi arterovenosa retinica congenita","Comunicazione arterovenosa congenita della retina"],"definition":"Si tratta di una malformazione neovascolare rara, caratterizzata da una comunicazione diretta monolaterale tra il sistema arterioso e venoso della retina tramite vasi anomali e dilatati, in assenza di capillari interposti. La malattia interessa per lo più il sistema vascolare inferotemporale. I pazienti possono essere asintomatici o presentare perdita della vista di gravità variabile. Le complicanze vascolari locali comprendono le occlusioni vascolari e le emorragie retiniche o vitreali. L'anomalia può essere isolata oppure rientrare nel quadro della sindrome di Wyburn-Mason, caratterizzata da malformazioni arterovenose intracraniche (che di solito interessano uno stesso lato)."},"nl":{"name":"Congenitale retinale arterioveneuze communicatie","synonyms":["Congenital arterioveneuze communicatie van de retina","Congenitale arterioveneuze anastomoses van de retina","Congenitale retinale arterioveneuze anastomoses"],"definition":"Een zeldzame neurovasculaire malformatie, gekarakteriseerd door unilaterale, directe communicatie tussen arterieel en veneus systeem in retina via abnormale, vergrote bloedvaten, maar zonder tusssenliggende capillairen. Inferotemporale vasculatuur wordt het vaakst aangetast. Patiënten kunnen asymptomatisch zijn of variabele gradaties van verlies van gezichtsvermogen vertonen. Locale vasculaire complicaties zijn onder meer vasculaire occlusies of bloedingen van netvlies of glasachtig lichaam. De anomalie kan geïsoleerd voorkomen, of als onderdeel van syndroom van Wyburn-Mason, waarbij intracraniale (meestal ipsilaterale) arterioveneuze malformaties aanwezig zijn."},"pt":{"name":"Comunicação arteriovenosa congénita da retina"},"pl":{"name":"Wrodzone połączenie tętniczo-żylne w siatkówce","synonyms":["Wrodzone anastomozy tętniczo-żylne w siatkówce"]},"cs":{"name":"Vrozené arteriovenózní anastomózy sítnice","synonyms":["Vrozená arteriovenózní komunikace na sítnici"]},"uk":{"name":"Вроджена артеріовенозна комунікація сітківки","synonyms":["Вроджені артеріовенозні анастомози сітківки","Вроджена артеріовенозна комунікація сітківки","Вроджені артеріовенозні анастомози сітківки"],"definition":"A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present."},"zh":{"name":"先天性视网膜动静脉交通","synonyms":["视网膜先天性动静脉交通"]},"tr":{"name":"Doğumsal retinal arteriyovenöz iletişim","synonyms":["Doğumsal retinal arteriyovenöz anastomozlar","Retinanın doğumsal arteriyovenöz anastomozları","Retinanın doğumsal arteriyovenöz bağlantısı"]}},"xrefs":[{"source":"ICD-10","code":"Q14.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018145","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0521570","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":716450,"name":"Rare non-progressive retinal vasculopathy","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}