{"orpha":499103,"name":"Recurrent idiopathic neuroretinitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RINR"],"definition":"A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-499103/","orphanet_url":"https://www.orpha.net/en/disease/detail/499103","names":{"fr":{"name":"Neurorétinite idiopathique récurrente","definition":"Neuropathie optique inflammatoire rare, caractérisée par des épisodes récurrents d'inflammation idiopathique de la tête du nerf optique avec un oedème de la papille optique associé à un exsudat maculaire en forme d'étoile. Les patients présentent une perte visuelle aiguë, le plus souvent sous la forme d'un large scotome central. La douleur est légère voire inexistante. L'atteinte bilatérale est fréquente et généralement séquentielle. L'intervalle entre les crises est très variable, allant de quelques mois à plusieurs années. La perte visuelle est de plus en plus importante avec chaque crise et souvent sévère."},"de":{"name":"Neuroretinitis, idiopathische, rezidivierende","synonyms":["RINR"],"definition":"Eine seltene inflammatorische Optikusneuropathie, die durch rezidivierende Episoden einer idiopathischen Entzündung des Sehnervenkopfes mit Sehnervenkopfödem und Makulaexsudat in einem sternförmigen Muster gekennzeichnet ist. Die Patienten präsentieren sich mit akutem Sehverlust, meist in Form eines großen zentralen Skotoms. Die Schmerzen sind gering oder nicht vorhanden. Eine bilaterale Beteiligung ist häufig und tritt in der Regel nacheinander auf. Die Intervalle zwischen den Anfällen sind sehr unterschiedlich und reichen von Monaten bis zu mehreren Jahren. Der Sehverlust kumuliert mit jedem Anfall und ist oft schwerwiegend."},"es":{"name":"Neurorretinitis idiopática recurrente","synonyms":["RINR"],"definition":"Es una neuropatía óptica inflamatoria poco frecuente caracterizada por episodios recurrentes de inflamación idiopática de la cabeza del nervio óptico con edema del disco óptico acompañado de exudado macular en forma de estrella. Los pacientes se presentan con pérdida visual aguda, por lo general en forma de un gran escotoma central. El dolor es leve o está ausente. La afectación bilateral es frecuente y habitualmente secuencial. El intervalo entre ataques es muy variable, desde meses hasta varios años. La pérdida visual es acumulativa con cada ataque y, a menudo, grave."},"it":{"name":"Neuroretinite idiopatica ricorrente","definition":"Si tratta di una neuropatia ottica infiammatoria rara, caratterizzata da episodi ricorrenti di infiammazione idiopatica della testa del nervo ottico con edema del disco ottico, associato ad un essudato maculare a forma di stella. I pazienti perdono improvvisamente la vista, di solito sotto forma di un grande scotoma centrale. Il dolore è lieve o manca del tutto. Spesso la malattia è bilaterale e sequenziale. L'intervallo tra un episodio e l'altro è molto variabile, da qualche mese a diversi anni. Dopo ogni nuovo episodio la perdita della vista si aggrava."},"nl":{"name":"Terugkerende idiopathische neuroretinitis","synonyms":["RINR"],"definition":"Een zeldzame inflammatoire opticusneuropathie, gekarakteriseerd door recidiverende episodes van idiopathische inflammatie van papil met papiloedeem geassocieerd met exsudaat van macula in een stervormig patroon. Patiënten vertonen acuut verlies van gezichtsvermogen, meestal onder de vorm van groot centraal scotoom. Pijn is mild of afwezig. Bilaterale betrokkenheid komt vaak voor en treedt meestal sequentieel op. Het interval tussen aanvallen is hoogst variabel, gaande van maanden tot jaren. Verlies van gezichtsvermogen is cumulatief bij elke aanval en vaak ernstig."},"pt":{"name":"Neurorretinite idiopática recorrente"},"pl":{"name":"Idiopatyczne powtarzające się zapalenie nerwu wzrokowego","synonyms":["RINR"]},"cs":{"name":"Rekurentní idiopatická neuroretinitida","synonyms":["RINR"]},"uk":{"name":"Рецидивуючий ідіопатичний нейроретиніт","synonyms":["RINR"],"definition":"A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe."},"zh":{"name":"反复发作的特发性视神经视网膜炎","synonyms":["RINR"]},"tr":{"name":"Tekrarlayan idiyopatik nöroretinit","synonyms":["RINR"]}},"xrefs":[{"source":"ICD-10","code":"H46","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C40.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044689","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680094","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":499047,"name":"Autoimmune/inflammatory optic neuropathy","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}