{"orpha":499096,"name":"Isolated optic neuritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ION"],"definition":"A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-499096/","orphanet_url":"https://www.orpha.net/en/disease/detail/499096","names":{"fr":{"name":"Névrite optique isolée","definition":"Neuropathie optique inflammatoire rare caractérisée par des épisodes isolés (ponctuels ou récurrents) de névrite optique sans association avec une autre maladie neurologique ou systémique. Les patients se plaignent généralement d'une perte de vision unilatérale subaiguë progressant sur plusieurs jours à deux semaines, d'une douleur périoculaire et d'une douleur lors du mouvement des yeux (qui peut précéder l'apparition des symptômes visuels), des flash lumineux lors du mouvement des yeux, d'une vision anormale des couleurs, d'une sensibilité réduite aux contrastes et d'un déficit pupillaire afférent relatif. Le disque optique est gonflé chez de nombreux patients, et une uvéite peut être associée et persister pendant des années avant l'apparition de la névrite optique."},"de":{"name":"Optikusneuritis, isolierte","synonyms":["ION"],"definition":"Eine seltene entzündliche Optikusneuropathie, die durch isolierte (einmalige oder wiederkehrende) Episoden von Optikusneuritis gekennzeichnet ist, die nicht mit anderen neurologischen oder systemischen Erkrankungen einhergehen. Die Patienten präsentieren sich typischerweise mit subakutem, einseitigem Sehverlust, der sich über mehrere Tage bis zwei Wochen hinzieht, periokulären Schmerzen und Schmerzen bei Augenbewegungen (die dem Auftreten von visuellen Symptomen vorausgehen können), Lichtblitzen bei Augenbewegungen, abnormalem Farbensehen, verminderter Kontrastempfindlichkeit und einem relativen afferenten Pupillendefekt. Bei vielen Patienten erscheint der Sehnervenkopf geschwollen. Eine Uveitis kann damit einhergehen und bereits Jahre vor der Sehnerventzündung vorhanden sein."},"es":{"name":"Neuritis óptica aislada","synonyms":["ION"],"definition":"Es una neuropatía óptica inflamatoria poco frecuente caracterizada por episodios aislados (únicos o recurrentes) de neuritis óptica no asociada con otra enfermedad neurológica o sistémica. Los pacientes suelen presentar pérdida de visión unilateral subaguda que progresa durante varios días a dos semanas, dolor periocular y dolor al mover los ojos (que puede preceder a la aparición de los síntomas visuales), destellos de luz asociados con el movimiento ocular, visión anómala del color, reducida sensibilidad al contraste y defecto pupilar aferente relativo. El disco óptico parece estar inflamado en muchos pacientes y la uveítis puede estar asociada y presente durante años antes del inicio de la neuritis óptica."},"it":{"name":"Neurite ottica isolata","definition":"Si tratta di una neuropatia ottica infiammatoria rara, caratterizzata da episodi isolati (singoli o ricorrenti) di neurite ottica non associata alle malattie neurologiche o sistemiche. Di solito i pazienti presentano la perdita della vista subacuta monolaterale, che progredisce nell'arco di alcuni giorni fino a due settimane, il dolore perioculare e il dolore durante il movimento degli occhi (che può precedere l'esordio dei sintomi visivi), i flash luminosi durante il movimento oculare, le anomalie della visione dei colori, la ridotta sensibilità al contrasto e difetto relativo pupillare afferente. In molti pazienti si osserva un gonfiore del disco ottico e la malattia può associarsi all'uveite, anche diversi anni prima dell'esordio della neurite ottica."},"nl":{"name":"Geïsoleerde opticusneuritis","synonyms":["ION"],"definition":"Een zeldzame inflammatoire opticusneuropathie, gekarakteriseerd door geïsoleerde episodes (enkelvoudig of recidiverend) van neuritis optica (oogzenuwontsteking), niet geassocieerd met andere neurologische of systemische ziekte. Patiënten presenteren zich doorgaans met subacuut unilateraal verlies van gezichtsvermogen met progressie gedurende enkele dagen tot twee weken, perioculaire pijn en pijn bij oogbeweging (die kunnen voorafgaan aan aanvang van visuele symptomen), lichtflitsen bij oogbeweging, abnormaal kleurenzicht, verminderde contrastgevoeligheid, en relatief afferent pupildefect. Bij vele patiënten lijkt de optische papil gezwollen, en uveïtis kan geassocieerd zijn en kan jarenlang aanwezig zijn voor aanvang van neuritis optica."},"pt":{"name":"Neurite óptica isolada"},"pl":{"name":"Izolowane zapalenie nerwu wzrokowego","synonyms":["ION"]},"cs":{"name":"Izolovaná neuritida optiku","synonyms":["ION"]},"uk":{"name":"Ізольований неврит зорового нерва","synonyms":["ION"],"definition":"A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis."},"zh":{"name":"单发视神经炎","synonyms":["ION"],"definition":"一种罕见的炎症性视神经病变，以孤立性发作（单发或复发）的视神经炎为特征，不伴有其他神经系统或全身性疾病。患者通常表现为在数天至两周内进行性亚急性单侧视力下降，眼周疼痛和眼球运动时疼痛（可能在视觉症状出现之前），眼球运动时有闪光，色觉异常，对比度敏感性降低，以及相对性传入性瞳孔反应缺陷。很多患者的视盘出现肿胀，可能伴有视网膜炎，可在视神经炎发病前数年存在。"},"tr":{"name":"İzole optik nevrit","synonyms":["ION"]}},"xrefs":[{"source":"ICD-10","code":"H46","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"9C40.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"210935787"},{"source":"MONDO","code":"0044688","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848152","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10030942","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":592885,"name":"OBSOLETE: Isolated optic neuritis without anti-MOG antibodies","status":"inactive"},{"type":"Referred to","orpha":592888,"name":"OBSOLETE: Isolated optic neuritis with anti-MOG antibodies","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":499047,"name":"Autoimmune/inflammatory optic neuropathy","classifications":[189]},{"orpha":182064,"name":"Rare neuroinflammatory or neuroimmunological disease","classifications":[181]}],"children":[{"orpha":499085,"name":"Chronic relapsing inflammatory optic neuritis","type":"Clinical subtype"},{"orpha":659634,"name":"Relapsing isolated optic neuritis","type":"Clinical subtype"},{"orpha":659626,"name":"Single isolated optic neuritis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-12-18","source":"31229520[PMID]_37364518[PMID]_37364518[PMID]","terms":[{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030857","label":"Eye movement-induced pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032036","label":"Reduced contrast sensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200057","label":"Marcus Gunn pupil","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033342","label":"Anti-aquaporin 4 antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}