{"orpha":268139,"name":"Intraocular medulloepithelioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Orbital medulloepithelioma"],"definition":"Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268139/","orphanet_url":"https://www.orpha.net/en/disease/detail/268139","names":{"fr":{"name":"Médulloépithéliome intraoculaire","synonyms":["Médulloépithéliome orbitaire"],"definition":"Le médulloépithéliome intraoculaire est une tumeur oculaire rare caractérisée par une masse kystique de couleur blanche, grise ou jaune issue de l'épithélium non pigmenté, neuroectodermique primaire du corps ciliaire, ou occasionnellement, du nerf optique, du disque optique, de la rétine ou de l'iris. Son évolution clinique est bénigne et le pronostic est bon. Il se présente habituellement pendant l'enfance par un trouble de la vision, une douleur, un glaucome et/ou une cataracte. Une leucocorie, une exotropie, une exophtalmie, un strabisme, un épiphora, un changement de coloration de l'oeil, un hyphème et une augmentation de la pression intraoculaire sont aussi caractéristiques de la maladie."},"de":{"name":"Medulloepitheliom, intraokuläres","synonyms":["Medulloepitheliom, orbitales"],"definition":"Das intraokuläre Medulloepitheliom ist ein seltener Augentumor, der durch eine weiße, graue oder gelb gefärbte zystische Masse gekennzeichnet ist, die aus dem primitiven neuroektodermalen, nichtpigmentierten Epithel des Ziliarkörpers oder gelegentlich aus dem Sehnerv, dem Sehnervenkopf, der Netzhaut oder der Iris entsteht. Es präsentiert sich in der Regel mit Beginn der Kindheit mit Sehstörungen und Schmerzen, Glaukom und/oder Katarakt. Leukokorie, Exotropie, Exophthalmus, Strabismus, Epiphora, Veränderung der Augenfarbe, Hyphema und erhöhter Augeninnendruck sind weitere assoziierte Manifestationen. Typischerweise hat es einen benignen klinischen Verlauf mit guter Prognose."},"es":{"name":"Meduloepitelioma intraocular","synonyms":["Meduloepitelioma orbitario"],"definition":"El meduloepitelioma intraocular es un tumor ocular poco frecuente caracterizado por una masa quística de color blanco, gris o amarillo que deriva del neuroectodermo primitivo, del epitelio no pigmentado del cuerpo ciliar u, ocasionalmente, del nervio óptico, del disco óptico, de la retina o del iris. Típicamente tiene un curso clínico benigno con buen pronóstico y, por lo general, se presenta con un inicio en la infancia de visión deficiente y dolor, glaucoma, y/o cataratas. La leucocoria, exotropia, exoftalmos, estrabismo, epífora, los cambios de color de los ojos, el hipema y la presión intraocular elevada son también manifestaciones destacadas."},"it":{"name":"Medulloepitelioma intraoculare","synonyms":["Medulloepitelioma orbitale"],"definition":"Il medulloepitelioma intraoculare è un tumore raro dell'occhio, caratterizzato dalla presenza di una massa cistica di colore bianco, grigio o giallo, che origina dall'epitelio primitivo neuroectodermico non pigmentato del corpo ciliare oppure, raramente, dal nervo ottico, dal disco ottico, dalla retina o dall'iride. Di solito il decorso clinico è benigno e la prognosi favorevole. In genere esordisce durante l'infanzia con scarsa acuità visiva, dolore, glaucoma e/o cataratta. Altri segni caratteristici sono la leucocoria, l'exotropia, l'esoftalmo, lo strabismo, l'epifora, le alterazioni della colorazione dell'occhio, l'ifema e l'aumento della pressione intraoculare."},"nl":{"name":"Intraoculair medullo-epithelioom","synonyms":["Orbitaal medullo-epithelioom"],"definition":"Intraoculair medullo-epithelioom is een zeldzame oogtumor en wordt gekarakteriseerd door een witte, grijze of gele cystische massa die ontstaat uit het primitief neuro-ectodermaal, niet-gepigmenteerd epitheel van het straalvormig lichaam, of soms ook uit de gezichtszenuw, papil, retina of iris. De ziekte heeft doorgaans een goedaardig klinisch verloop met een gunstige prognose en manifesteert zich meestal met aanvang in de kindertijd van slecht zicht en pijn, glaucoom en/of cataract. Andere opvallende symptomen zijn leukocorie, exotropie, exoftalmie, strabisme, epifora, verandering van oogkleur, hyfema, en verhoogde intraoculaire druk."},"pt":{"name":"Meduloepitelioma intraocular","synonyms":["Meduloepitelioma orbital"]},"pl":{"name":"Wewnątrzgałkowy nabłoniak rdzeniakowy","synonyms":["Nabłoniak rdzeniakowy oczodołu"]},"cs":{"name":"Nitrooční meduloepiteliom","synonyms":["Orbitální meduloepiteliom"]},"uk":{"name":"Внутрішньоочна медулоепітеліома","synonyms":["Орбітальна медулоепітеліома"],"definition":"Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations."},"zh":{"name":"眼内髓上皮瘤","synonyms":["眼眶髓上皮瘤"],"definition":"眼内髓上皮瘤是一种罕见的眼部肿瘤，其特征为白色、灰色或黄色的囊性肿块，起源于睫状体原始的神经外胚层无色素上皮，偶尔也来自视神经、视盘、视网膜或虹膜。它通常具有良性的临床病程，预后良好，通常表现为儿童时期起病，表现为视力下降和疼痛，青光眼，和/或白内障。白花、外斜视、眼球突出、斜视、溢泪、眼睛颜色改变、前房积血和眼压升高也是显著的表现。"},"tr":{"name":"Göz içi medulloepitelyom","synonyms":["Orbital medulloepitelyoma"]}},"xrefs":[{"source":"ICD-10","code":"D31.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1883694","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":101950,"name":"Rare eye tumor","classifications":[189,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}