{"orpha":91491,"name":"Congenital ectropion uveae","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91491/","orphanet_url":"https://www.orpha.net/en/disease/detail/91491","names":{"fr":{"name":"Ectropion congénital de l'épithélium pigmenté de l'iris","definition":"L'ectropion congénital de l'épithélium pigmenté de l'iris est une anomalie rare, génétique et non syndromique du développement oculaire, caractérisé par la présence de l'épithélium pigmenté de l'iris au niveau de la surface antérieure de l'iris, d'une insertion antérieure de l'iris, d'une dysgénésie angulaire et d'un glaucome progressif à angle ouvert (ce dernier peut survenir pendant la petite enfance ou se développer plus tardivement). Les patients peuvent présenter des céphalées, des douleurs oculaires, une photophobie, et une rougeur, un larmoiement et/ou un gonflement de l'oeil. Il peut parfois être associé à une neurofibromatose, et plus rarement, à d'autres anomalies oculaires."},"de":{"name":"Ektropion uveae, kongenitales","definition":"Das kongenitale Ektropium uveae ist ein seltener, genetisch bedingter, nicht-syndromaler Entwicklungsdefekt des Auges, der durch das Vorhandensein von Iris-Pigmentepithel auf der vorderen Oberfläche der Iris, eine vordere Insertion der Iris, Winkeldysgenesie und ein progressives Offenwinkelglaukom gekennzeichnet ist (letzteres kann im Säuglingsalter auftreten oder sich später im Leben entwickeln). Die Patienten können sich mit Kopfschmerzen, Augenschmerzen, Photophobie und Rötung, Tränenfluss und/oder Schwellung des Auges präsentieren. Häufig sind Neurofibromatose und seltener andere okuläre Anomalien assoziiert."},"es":{"name":"Ectropión uveal congénito","definition":"El ectropión uveal congénito es un defecto raro, genético, no sindrómico del desarrollo del ojo caracterizado por la presencia de epitelio pigmentario del iris en la superficie anterior del iris, inserción anteriorizada del iris, disgenesia angular y glaucoma progresivo de ángulo abierto (este último puede presentarse en la infancia o desarrollarse más tarde en la vida). Los afectados pueden presentar dolores de cabeza, dolor ocular, fotofobia y enrojecimiento, lagrimeo y / o inflamación del ojo. A menudo puede asociarse con neurofibromatosis y ocasionalmente con otras anomalías oculares."},"it":{"name":"Ectropion congenito dell'uvea","definition":"L'ectropion congenito dell'uvea è un difetto raro, non sindromico, dello sviluppo dell'occhio, caratterizzato dalla presenza di epiltelio pigmentato dell'iride sulla superficie anteriore dell'iride, inserzione anteriore dell'iride, disgenesia dell'angolo e glaucoma progressivo ad angolo aperto (che può esordire durante o dopo l'infanzia). I pazienti possono manifestare cefalea, dolore oculare, fotofobia, rossore, lacrimazione e/o gonfiore dell'occhio. Questo difetto spesso si associa alla neurofibromatosi e, più raramente, ad altre anomalie degli occhi."},"nl":{"name":"Congenitale ectropion uveae","definition":"Congenitale ectropion uveae is een zeldzaam, genetisch, niet-syndromaal ontwikkelingsdefect van het oog dat gekarakteriseerd wordt door de aanwezigheid van iris-pigmentepitheel op het voorste oppervlak van de iris, anterieure insertie van de iris, hoek dysgenesie en progressief open-hoek glaucoom (dit laatste kan zich voordoen in de zuigelingentijd of pas op latere leeftijd ontwikkelen). Patiënten vertonen mogelijk hoofdpijn, oculaire pijn, fotofobie, en rode, waterige en/of gezwollen ogen. De aandoening kan vaak geassocieerd zijn met neurofibromatose en minder vaak met andere oculaire afwijkingen."},"pt":{"name":"Ectropion uveae congénito"},"pl":{"name":"Wrodzone wywinięcie listka barwnikowego tęczówki"},"cs":{"name":"Vrozené ektropion živnatky/uvey"},"uk":{"name":"Вроджений ектропіон повік","definition":"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities."},"zh":{"name":"先天性葡萄膜外翻","definition":"先天性葡萄膜外翻是一种罕见的遗传性非综合征性眼发育缺陷，其特征是虹膜前表面存在虹膜色素上皮，虹膜前插，房角发育不全和进行性开角型青光眼（后者可能在婴儿期出现，也可能在之后逐渐形成）。患者可能表现出头痛、眼痛、畏光和眼睛发红、流泪和/或眼睛肿胀。它通常与神经纤维瘤病有关，而很少与其他眼部异常相关。"},"tr":{"name":"Doğumsal ektropiyon uvea"}},"xrefs":[{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.03","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0019630","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1303012","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}