{"orpha":91495,"name":"Persistent hyperplastic primary vitreous","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital retinal detachment","NCRNA disease","Non-syndromic congenital retinal non-attachment","PFVS","PHPV","Persistent fetal vasculature syndrome"],"definition":"A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91495/","orphanet_url":"https://www.orpha.net/en/disease/detail/91495","names":{"fr":{"name":"Persistance du vitré primitif","synonyms":["Cécité congénitale par défaut d'attachement de la rétine","Décollement congenital de la rétine","PFVS","PHPV","Vascularisation foetale persistante"],"definition":"Maladie ophtalmique rare caractérisée par la persistance, le plus souvent unilatérale, oculaires du foetus, de la tunique vasculaire et/ou du système hyaloïde, composants des vaisseaux, à l'origine d'une maladie du segment antérieur de l'oeil (à savoir une microphtalmie, une leucocorie, une cataracte, un glaucome, un étirement des procès ciliaires, une chambre antérieure peu profonde, et des membranes fibrovasculaires rétrolentales) ou d'un sous-type de maladie du segment postérieur (avec une microphtalmie, une leucocorie, la présence d'un pli ou d'un décollement de la rétine, d'une hypoplasie ou dysplasie du nerf optique et membranes et du corps vitré et de la tige optique). La plupart des patients présentent une combinaison de ces deux sous-types."},"de":{"name":"Persistierender hyperplastischer primärer Vitreus","synonyms":["Kongenitale Netzhautablösung","NCRNA-Krankheit","PFVS","PHPV-Syndrom","Persistierende fetale vaskuläre Strukturen"],"definition":"Eine seltene Augenerkrankung, die durch ein meist einseitiges Versagen der Rückbildung einer fetalen okulären Gefäßkomponente, der Tunica vasculosa lentis und/oder des hyaloiden Systems gekennzeichnet ist und zu einem anterioren (mit Mikrophthalmie, Leukokorie, Katarakt, Glaukom) oder posterioren Subtyp (u. a. mit Mikrophthalmie, Leukokorie, Katarakt, Glaukom, verlängerten Ziliarfortsätzen, flacher Vorderkammer und retrolentalen fibrovaskulären Membranen) führt. Die meisten Patienten weisen eine Kombination der beiden Subtypen auf."},"es":{"name":"Vítreo primario hiperplásico persistente","synonyms":["Desprendimiento de retina congénito","Enfermedad NCRNA","Falta de adhesión de la retina congénita no sindrómica","PFVS","Persistencia hiperplásica de vítreo primario","Síndrome de persistencia de la vascularización fetal","VPHP"],"definition":"Es un trastorno oftalmológico poco frecuente caracterizado por un defecto, mayoritariamente unilateral, de regresión de un componente del vaso ocular fetal, la túnica vasculosa lentis y/o del sistema vascular hialoideo. Dicho defecto resulta en un subtipo anterior (que se manifiesta con microftalmia, leucocoria, cataratas, glaucoma, procesos ciliares alargados, cámara anterior poco profunda y membranas fibrovasculares retrolentales, entre otras) o posterior (con microftalmia, leucocoria, presencia de pliegue o desprendimiento retiniano, nervio óptico hipo- o displásico, y membrana y velos vítreos) de la enfermedad, respectivamente. La mayoría de los pacientes presenta una combinación de ambos subtipos."},"it":{"name":"Vitreo primitivo iperplastico persistente","synonyms":["PFVS","PHPV","Sindrome da persistenza della vascolarizzazione fetale"],"definition":"Si tratta di una malattia oculare rara, caratterizzata dalla mancata regressione, per lo più monolaterale, di una componente del vaso oculare fetale, della tunica vascolare del cristallino e/o del sistema ialoideo, che causa il sottotipo anteriore della malattia (microftalmia, leucocoria, cataratta, glaucoma, allungamento dei processi ciliari, camera anteriore poco profonda e membrane fibrovascolari retrolentali) o il sottotipo posteriore (microftalmia, leucocoria, plica retinica o distacco della retina, ipoplasia o displasia del nervo ottico, e membrane e peduncolo del vitreo). La maggior parte dei pazienti presenta una combinazione dei due sottotipi."},"nl":{"name":"Persisterend hyperplastisch primair glasvocht","synonyms":["Congenitale netvliesloslating","NCRNA-ziekte","Niet-syndromale congenitale netvliesloslating","PFVS","PHPV","Syndroom van persisterende foetale vasculatuur"],"definition":"Een zeldzame oftalmologische aandoening, gekarakteriseerd door overwegend unilateraal falen van regressie van een component van foetaal bloedvat van oog, de tunica vasculosa lentis en/of het hyaloïde systeem, wat resulteert in respectievelijk anterieur subtype (dat zich presenteert met onder meer microftalmie, leukocorie, cataract, glaucoom, verlengde processus ciliares, ondiepe voorste oogkamer, en retrolentale fibrovasculaire membranen) of posterieur subtype (met microftalmie, leukocorie, aanwezigheid van retinaplooi of netvliesloslating, hypo- of dysplastische oogzenuw, en glasvochtmembraan en oogsteel) van de ziekte. De meeste patiënten vertonen een combinatie van de twee subtypes."},"pt":{"name":"Vítreo primário hiperplásico persistente"},"pl":{"name":"Przetrwałe hiperplastyczne pierwotne ciało szkliste","synonyms":["PFVS","PHPV","Choroba NCRNA","Wrodzone odwarstwienie siatkówki","Zespół przetrwałego unaczynienia płodowego"]},"cs":{"name":"Perzistující hyperplastický primární sklivec","synonyms":["PFVS","PHPV","Perzistující fetální vaskulatura","Perzistence primárního sklivce"]},"uk":{"name":"Персистуюче гіперпластичне первинне склоподібне тіло","synonyms":["Вроджене відшарування сітківки","NCRNA-захворювання","Несиндромне вроджене неприкріплення сітківки","Персистуючий судинний синдром плода","PFVS","PHPV"],"definition":"A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes."},"zh":{"name":"持续性原始玻璃体增生症","synonyms":["非综合征性先天性视网膜不附着"]},"tr":{"name":"Kalıcı hiperplastik primer vitröz","synonyms":["PFVS","PHPV","NCRNA hastalığı","Doğumsal retina dekolmanı","Kalıcı fetal vaskülatür sendrom","Sendromik olmayan doğumsal retinal bağlanmaması"]}},"xrefs":[{"source":"OMIM","code":"221900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611308","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q14.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1011137326"},{"source":"MONDO","code":"0019631","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054514","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":300337,"name":"OBSOLETE: Congenital blindness due to retinal non-attachment","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716435,"name":"Rare non-progressive vitreoretinopathy","classifications":[156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"ATOH7","name":"atonal bHLH transcription factor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22645276[PMID]","hgnc":"13907","ensembl":"ENSG00000179774","omim":"609875","loci":["10q21.3"]},{"symbol":"FZD4","name":"frizzled class receptor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19172507[PMID]_20092598[PMID]_20301506[PMID]","hgnc":"4042","ensembl":"ENSG00000174804","omim":"604579","loci":["11q14.2"]},{"symbol":"NDP","name":"norrin cystine knot growth factor NDP","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301506[PMID]","hgnc":"7678","ensembl":"ENSG00000124479","omim":"300658","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2021-10-14","source":"30375202[PMID]_33728125[PMID]_29207745[PMID]_27582535 [PMID]_29031676[PMID]","terms":[{"hpo":"HP:0007968","label":"Remnants of the hyaloid vascular system","frequency":"Obligate (100%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000555","label":"Leukocoria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012109","label":"Angle closure glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030743","label":"Glial remnants anterior to the optic disc","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030744","label":"Hyaloid vascular remnant and retrolental mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009917","label":"Persistent pupillary membrane","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007917","label":"Tractional retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011885","label":"Hemorrhage of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001104","label":"Macular hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000667","label":"Phthisis bulbi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008052","label":"Retinal fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000594","label":"Shallow anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Very rare (<4-1%)","criteria":null}]}}