{"orpha":263479,"name":"Fuchs heterochromic iridocyclitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FHI"],"definition":"Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uveitis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263479/","orphanet_url":"https://www.orpha.net/en/disease/detail/263479","names":{"fr":{"name":"Iridocyclite hétérochromique de Fuchs","synonyms":["FHI"],"definition":"Maladie oculaire d'étiologie inconnue observée dans un très faible pourcentage (0,5 à 6,2&nbsp;%) des cas d'uvéite, caractérisée par une hétérochromie ou une atrophie diffuse de l'iris, des précipités kératiques en l'absence de synéchies, évoluant dans certains cas vers un glaucome et des opacités du vitré."},"de":{"name":"Fuchs Heterochromie-Iridozyklitis","synonyms":["Fuchs'sche Uveitis-Syndrom","Heterochromiezyklitis Fuchs"],"definition":"Die Heterochrome Iridozyklitis Fuchs (FHI) ist eine seltene, ätiologisch ungeklärte Augenkrankheit, die in seltenen Fällen (0,5-6,2%) bei Uveitis auftritt. Kennzeichen sind diffuse Heterochromie oder Atrophie der Iris, keratitische Ablagerungen bei fehlender Synechie und, in einigen Fällen, Entwicklung von Glaukom und Glaskörpertrübungen."},"es":{"name":"Iridociclitis heterocrómica de Fuchs","definition":"La iridociclitis heterocrómica de Fuchs (FHI) es una enfermedad ocular de etiología desconocida que ocurre en un porcentaje muy pequeño (0,5-6,2%) de los casos de uveítis; se caracteriza por una heterocromía o atrofia difusa del iris, precipitados queráticos en ausencia de sinequias y, en algunos casos, evoluciona a un glaucoma y opacidades vítreas."},"it":{"name":"Iridociclite eterocromica di Fuchs","synonyms":["FHI"],"definition":"L'iridociclite eterocromica di Fuchs (FHI) è una malattia oculare dall'eziologia sconosciuta che si presenta in una percentuale molto limitata (0,5-6,2%) di casi di uveite; è caratterizzata da eterocromia o atrofia diffusa dell'iride, precipitati cheratici in assenza di sinechie e, in alcuni casi, evolve in glaucoma e opacità del vitreo."},"nl":{"name":"Heterochrome iridocyclitis van Fuchs","synonyms":["FHI"],"definition":"Een aandoening van oog met ongekende etiologie die optreedt bij een zeer klein percentage (0,5-6,2%) van gevallen van uveïtis, gekenmerkt door diffuse heterochromie of atrofie van iris, keratitische precipitaten in afwezigheid van synechieën, en in sommige gevallen progressie tot glaucoom en troebeling van corpus vitreum."},"pt":{"name":"Iridociclite heterocrómica de Fuchs"},"pl":{"name":"Heterochromiczne zapalenie tęczówki i ciała rzęskowego Fuchsa","synonyms":["FHI"]},"cs":{"name":"Fuchsova heterochromní iridocyklitida","synonyms":["FHI"]},"uk":{"name":"Гетерохромний іридоцикліт Фукса","synonyms":["FHI"],"definition":"Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities."},"zh":{"name":"Fuchs异色性虹膜睫状体炎","synonyms":["FHI"],"definition":"Fuchs异色素性虹膜睫状体炎是一种病因不明的眼部疾病，发生在极少数(0.5-6.2%)葡萄膜炎病例中，其特征是弥漫性虹膜异色或萎缩，无粘连的角化沉淀，在某些情况下发展为青光眼和玻璃体混浊。"},"tr":{"name":"Fuchs heterokromik iridosiklit","synonyms":["FHI"]}},"xrefs":[{"source":"ICD-10","code":"H20.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9A96.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"82747757"},{"source":"MONDO","code":"0016989","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016782","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6791","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017406","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":306648,"name":"Non-infectious anterior uveitis","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Finland","status":"Validated","source":"9088407[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Finland","status":"Validated","source":"9088407[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-03-31","source":"27781126[PMID]_16458965[PMID]_17986291[PMID]_11815885[PMID]","terms":[{"hpo":"HP:0031701","label":"Anterior chamber inflammatory cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025341","label":"Corneal keratic precipitates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001089","label":"Iris atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034821","label":"Bussaca nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034820","label":"Koeppe nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030534","label":"Abnormal best corrected visual acuity test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007777","label":"Chorioretinal scar","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025337","label":"Red eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030554","label":"Best corrected visual acuity 0.1 LogMAR","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011958","label":"Retinal perforation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011484","label":"Posterior synechiae of the anterior chamber","frequency":"Excluded (0%)","criteria":null}]}}