{"orpha":40923,"name":"Eales disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic retinal perivasculitis","Idiopathic retinal vasculitis"],"definition":"A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-40923/","orphanet_url":"https://www.orpha.net/en/disease/detail/40923","names":{"fr":{"name":"Maladie d'Eales","synonyms":["Perivascularite rétinienne idiopathique","Vascularite rétinienne idiopathique"],"definition":"Maladie ophtalmique rare caractérisée par trois stades : vascularite, occlusion et néovascularisation rétinienne, entraînant des hémorragies récurrentes du vitré et une perte de vision."},"de":{"name":"Eales-Krankheit","synonyms":["Idiopathische Perivaskulitis der Retina","Idiopathische retinale Pervaskulitis"],"definition":"Eine seltene Augenerkrankung, die durch 3 Stadien gekennzeichnet ist: Vaskulitis, Okklusion und Neovaskularisation der Netzhaut, die zu wiederkehrenden Glaskörperblutungen und Sehverlust führt."},"es":{"name":"Enfermedad de Eales","synonyms":["Perivasculitis retiniana idiopática","Vasculitis retiniana idiopática"],"definition":"Es un trastorno oftalmológico poco frecuente caracterizado por tres fases: vasculitis, oclusión y neovascularización retiniana, que conduce a hemorragias vítreas recurrentes y pérdida de visión."},"it":{"name":"Malattia di Eales","synonyms":["Perivasculite retinica idiopatica","Vasculite retinica idiopatica"],"definition":"Si tratta di una malattia oculare rara, caratterizzata da tre fasi: vasculite, occlusione e neovascolarizzazione retinica, che causa emorragie vitreali ricorrenti e perdita della vista."},"nl":{"name":"Ziekte van Eales","synonyms":["Idiopathische retinale perivasculitis","Idiopathische retinale vasculitis"],"definition":"Een zeldzame oftalmische aandoening, gekarakteriseerd door 3 stadia: vasculitis (bloedvatontsteking), occlusie (afsluiting van bloedvat) en retinale neovascularisatie, wat leidt tot terugkerende glasvochtbloedingen en functieverlies van het zicht."},"pt":{"name":"Doença de Eales"},"pl":{"name":"Choroba Ealesa","synonyms":["Idiopatyczne zapalenie naczyń siatkówki","Idiopatyczne zapalenie okołonaczyniowe siatkówki"],"definition":"Choroba Eales (ED) jest samoistną, zapalną chorobą naczyń żylnych siatkówki związaną z niedrożnością, która przebiega w 3 stadiach: zapalenie naczyń, niedrożność i neowaskularyzacja siatkówki, co prowadzi do nawracających krwawień do ciała szklistego i utraty wzroku."},"cs":{"name":"Ealesova nemoc","synonyms":["Idiopatická retinální perivaskulitida","Idiopatická retinální vaskulitida"]},"uk":{"name":"Хвороба Ілза","synonyms":["Ідіопатичний периваскуліт сітківки","Ідіопатичний васкуліт сітківки"],"definition":"A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss."},"zh":{"name":"Eales病","synonyms":["特发性视网膜性血管周炎"]},"tr":{"name":"Eales hastalığı","synonyms":["İdiyopatik retinal vaskülit","İdiyopatik retinal perivaskülit"]}},"xrefs":[{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9B77","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"945788847"},{"source":"MONDO","code":"0018460","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538011","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271073","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6309","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057429","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-02","source":"32644547[PMID]_33314007[PMID]","terms":[{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025188","label":"Retinal vasculitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012122","label":"Anterior uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011505","label":"Cystoid macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030773","label":"Internuclear ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011497","label":"Iris neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040049","label":"Macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007052","label":"Multifocal cerebral white matter abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030667","label":"Peripheral retinal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030329","label":"Retinal thinning","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012230","label":"Rhegmatogenous retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007917","label":"Tractional retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030652","label":"Vitreous haze","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011531","label":"Vitritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025239","label":"Subhyaloid hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Very rare (<4-1%)","criteria":null}]}}