{"orpha":280921,"name":"Idiopathic panuveitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280921/","orphanet_url":"https://www.orpha.net/en/disease/detail/280921","names":{"fr":{"name":"Panuvéite idiopathique","definition":"Une maladie oculaire inflammatoire rare, d'étiologie inconnue. Elle se caractérise par une inflammation généralisée de l'uvée (iris, corps ciliaire, choroïde), de la rétine et du corps vitré, avec pour conséquence des spasmes ciliaires et la formation de synéchies postérieures conduisant à une atteinte visuelle unilatérale ou bilatérale, aigüe ou chronique, et à un inconfort ou une douleur oculaire. Les patients présentent un risque accru de développer des cataractes, un glaucome secondaire, un oedème maculaire cystoïde et/ou un décollement rétinien. La maladie peut potentiellement conduire à une perte de la vision."},"de":{"name":"Panuveitis, idiopathische","definition":"Die idiopathische Panuveitis ist eine seltene entzündliche Augenerkrankung unbekannter Ätiologie, die durch eine generalisierte Entzündung der Uvea (Iris, Ziliarkörper, Aderhaut), der Netzhaut und des Glaskörpers mit konsekutivem Ziliarkrampf und hinterer Synechienbildung gekennzeichnet ist und zu akuten oder chronischen, ein- oder beidseitigen Sehstörungen und Augenbeschwerden oder -schmerzen führt. Die Patienten haben ein erhöhtes Risiko für die Entwicklung eines Katarakts, eines Sekundärglaukoms, eines zystoiden Makulaödems und/oder einer Netzhautablösung. Die Krankheit kann zum Verlust des Sehvermögens führen."},"es":{"name":"Panuveítis idiopática","definition":"La panuveítis idiopática es una enfermedad ocular inflamatoria poco frecuente de etiología desconocida. Está caracterizada por una inflamación generalizada de la úvea (iris, cuerpo ciliar, coroides), retina y vítreo, con el consiguiente espasmo ciliar y formación de sinequias posteriores que pueden conducir a afectación visual aguda o crónica, unilateral o bilateral y molestias o dolor ocular. Los afectados presentan un mayor riesgo de desarrollo de cataratas, glaucoma secundario, edema macular quístico y/o desprendimiento de retina. Potencialmente, podría resultar en una pérdida de la visión."},"it":{"name":"Panuveite idiopatica","definition":"La panuveite idiopatica è una malattia infiammatoria rara dell'occhio, caratterizzata da infiammazione generalizzata dell'uvea (iride, corpo ciliare, coroide), della retina e del vitreo, con conseguenti spasmi ciliari e formazione di sinechie posteriori, che esitano nella compromissione acuta o cronica della vista, monolateralmente o bilateralmente, e in un fastidio o dolore a livello degli occhi. I pazienti sono a rischio di cataratta, glaucoma secondario, edema maculare cistoide e/o distacco della retina. La malattia può causare la cecità."},"nl":{"name":"Idiopathische panuveïtis","definition":"Idiopathische panuveïtis is een zeldzame inflammatoire oogziekte met onbekende etiologie, die wordt gekarakteriseerd door gegeneraliseerde inflammatie van de uvea (iris, straallichaam, vaatvlies), de retina en het glasachtig lichaam met als gevolg ciliaire spasmen en vorming van posterieure synechieën, wat leidt tot acute of chronische, unilaterale of bilaterale visuele beperking en oculaire ongemakken of pijn. Patiënten vertonen een verhoogd risico op de ontwikkeling van cataracten, secundair glaucoom, cystoïd macula-oedeem en/of netvliesloslating. De ziekte leidt mogelijk tot functieverlies van het zicht."},"pt":{"name":"Panuveíte idiopática"},"pl":{"name":"Idiopatyczne zapalenie wszystkich struktur błony naczyniowej"},"cs":{"name":"Idiopatická panuveitida"},"uk":{"name":"Ідіопатичний панувеїт","definition":"Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss."},"zh":{"name":"特发性全葡萄膜炎","definition":"特发性全葡萄膜炎是一种罕见的炎症性眼病，病因不明，其特征是葡萄膜（虹膜、睫状体、脉络膜）、视网膜和玻璃体的广泛炎症，伴睫状体痉挛和后粘连形成，导致急性或慢性，单侧或双侧视力损害和眼部不适或疼痛。患者患白内障、继发性青光眼、囊样黄斑水肿和/或视网膜脱离的风险增加。这可能会导致视力下降。"},"tr":{"name":"İdiyopatik panüveit"}},"xrefs":[{"source":"ICD-10","code":"H44.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C20.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707884","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":280898,"name":"Panuveitis","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0194,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5051,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"United States","status":"Validated","source":"27608193[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"United States","status":"Validated","source":"34802369[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-09","source":"19902397[PMID]_27782762[PMID]_2795939[PMID]_31082037[PMID]","terms":[{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025337","label":"Red eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030652","label":"Vitreous haze","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011505","label":"Cystoid macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000616","label":"Miosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011484","label":"Posterior synechiae of the anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030661","label":"Vitreous snowballs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Very rare (<4-1%)","criteria":null}]}}