{"orpha":519384,"name":"Congenital cystic eye","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital anophthalmos with cyst"],"definition":"A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519384/","orphanet_url":"https://www.orpha.net/en/disease/detail/519384","names":{"fr":{"name":"Oeil kystique congénital","synonyms":["Anophtalmie congénitale avec kyste"],"definition":"Anomalie du développement structurel rare de l'oeil caractérisée par un kyste persistant envahissant la cavité orbitaire en raison du défaut partiel ou complet d'invagination du feuillet interne de la cupule optique à travers une fente foetale persistante. Si le défaut d'invagination n'est que partiel, des structures oculaires dysplasiques peuvent être présentes. La paroi du kyste est composée de tissu conjonctif tapissé de matériel neuroglial. Le défaut est généralement unilatéral et peut être isolé ou associé à des malformations intra- ou extra-oculaires."},"de":{"name":"Zystenauge, kongenitales","synonyms":["Kongenitale Anophthalmie mit Zysten"],"definition":"Eine seltene strukturelle Entwicklungsstörung des Auges, die durch eine persistierende Zyste gekennzeichnet ist, die das Auge aufgrund eines teilweisen oder vollständigen Versagens der Einstülpung der Sehnervenblase während der Fetalperiode ersetzt. Wenn die Einstülpung nur teilweise fehlschlägt, können dysplastische Augenstrukturen vorhanden sein. Die Wand der Zyste besteht aus Bindegewebe, das von neuroglialem Material ausgekleidet ist. Der Defekt ist in der Regel einseitig und kann isoliert oder in Verbindung mit intra- oder extraokularen Fehlbildungen auftreten."},"es":{"name":"Ojo quístico congénito","synonyms":["Anoftalmos congénito con quiste"],"definition":"Es un defecto poco frecuente del desarrollo estructural del ojo que se caracteriza por la presencia de un quiste persistente que reemplaza al ojo debido a un defecto parcial o completo de la invaginación de la vesícula óptica durante el período fetal. Si el fracaso de la invaginación es solo parcial, pueden existir estructuras oculares displásicas. La pared del quiste está compuesta de tejido conectivo revestido por material neuroglial. El defecto suele ser unilateral y puede ser un hallazgo aislado o estar asociado a otras malformaciones intra- o extraoculares."},"it":{"name":"Occhio cistico congenito","definition":"Si tratta di un difetto raro dello sviluppo dell'occhio, caratterizzato dalla presenza di una cisti persistente che rimpiazza l'occhio, a causa dell'invaginazione parziale (o assente) della vescicola ottica in epoca fetale. Se la mancata invaginazione è solo parziale, possono essere presenti strutture oculari displastiche. La parete della cisti è composta da tessuto connettivo rivestito da materiale neurogliale. Di solito il difetto è monolaterale; può essere isolato o associarsi a malformazioni intra- o extraoculari."},"nl":{"name":"Congenitaal cystisch oog","synonyms":["Congenitale anoftalmie met cyste"],"definition":"Een zeldzaam structureel ontwikkelingsdefect van oog, gekarakteriseerd door een persisterende cyste die het oog vervangt als gevolg van gedeeltelijk of volledig gefaalde invaginatie oogblaasje tijdens de foetale periode. Bij gedeeltelijk gefaalde invaginatie kunnen dysplastische oculaire structuren aanwezig zijn. De wand van de cyste bestaat uit bindweefsel bekleed met materiaal van neuroglia. Het defect is meestal unilateraal en kan een geïsoleerde bevinding zijn of voorkomen in associatie met intra- of extraoculaire malformaties."},"pt":{"name":"Quisto ocular congénito"},"pl":{"name":"Wrodzona torbiel oka","synonyms":["Congenital anophthalmos with cyst"]},"cs":{"name":"Vrozený cystický oční bulbus","synonyms":["Congenital anophthalmos with cyst"]},"uk":{"name":"Вроджена кістозна хвороба ока","synonyms":["Вроджений анофтальм з кістою"],"definition":"A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations."},"zh":{"name":"先天性囊性眼","synonyms":["先天性囊性无眼畸形"],"definition":"一种罕见的结构性眼发育缺陷，其特征是在胎儿期由于眼泡部分或完全不能内陷，导致持续性囊肿取代眼球。如果只是部分内陷失败，则可能存在眼部结构发育不良。囊肿壁由结缔组织组成，内有神经胶质。缺损通常是单侧的，可能是孤立性发生，也可能与眼内或眼外畸形一起发生。"},"tr":{"name":"Doğumsal kistik göz","synonyms":["Kist ile seyreden doğumsal anoftalmi"]}},"xrefs":[{"source":"ICD-10","code":"Q11.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2061090928"},{"source":"MONDO","code":"0022825","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0158543","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10617","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519272,"name":"Structural developmental eye defect","classifications":[147,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":52.0,"area":"Worldwide","status":"Validated","source":"35656543[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35656543[PMID]_ORPHANET"}],"phenotypes":null}