{"orpha":90050,"name":"Retinopathy of prematurity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ROP","Retrolental fibroplasia"],"definition":"A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90050/","orphanet_url":"https://www.orpha.net/en/disease/detail/90050","names":{"fr":{"name":"Rétinopathie du prématuré","synonyms":["Fibroplasie rétrolentale","ROP"],"definition":"Maladie vasoproliférative rétinienne rare affectant les nourrissons prématurés, caractérisée initialement par un retard du développement physiologique vasculaire rétinien, et plus tard, par une angiogenèse aberrante sous forme d'une néovascularisation intravitréenne."},"de":{"name":"Frühgeborenen-Retinopathie","synonyms":["ROP","Retrolentale Fibroplasie"],"definition":"Eine seltene vasoproliferative Erkrankung der Netzhaut bei Frühgeborenen, die zunächst durch eine Verzögerung der physiologischen Netzhautgefäßentwicklung und eine beeinträchtigte physiologische Vaskularität gekennzeichnet ist. In der Folge kommt es als Ausdruck einer aberranten Angiogenese zu intravitrealer Neovaskularisation."},"es":{"name":"Retinopatía del prematuro","definition":"Es una enfermedad vasoproliferativa de la retina poco frecuente que afecta a los recién nacidos prematuros. Está caracterizada inicialmente por un retraso del desarrollo vascular fisiológico retiniano con afectación fisiológica de la vascularidad y, posteriormente, por angiogénesis aberrante en forma de neovascularización intravítrea."},"it":{"name":"Retinopatia del prematuro","definition":"Si tratta di una malattia vasoproliferativa rara della retina, che colpisce i neonati prematuri. Inizialmente è caratterizzata da un ritardo dello sviluppo fisiologico dei vasi retinici e dalla compromissione della normale vascolarizzazione, mentre in seguito insorge un'angiogenesi anomala, sotto forma di neovascolarizzazione intravitreale."},"nl":{"name":"Prematurenretinopathie","synonyms":["ROP","Retrolentale fibroplasie"],"definition":"Een zeldzame retinale vasoproliferatieve ziekte die premature zuigelingen treft en gekarakteriseerd wordt door een vertraagde fysiologische ontwikkeling van bloedvaten in het netvlies en gecompromitteerde fysiologische vasculariteit, en vervolgens door een aberrante angiogenese in de vorm van intravitreale neovascularisatie."},"pt":{"name":"Retinopatia da prematuridade"},"pl":{"name":"Retinopatia wcześniaków","synonyms":["ROP","Retrolental fibroplasia"]},"cs":{"name":"Retinopatie nedonošených","synonyms":["ROP","Retrolentální fibroplázie","RLF"]},"uk":{"name":"Ретинопатія недоношених","synonyms":["Ретролентальна фіброплазія","ROP"],"definition":"A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization."},"zh":{"name":"早产儿视网膜病","synonyms":["晶体后纤维增生症"]},"tr":{"name":"Prematüre retinopatisi","synonyms":["ROP","Retrolental fibroplazi"]}},"xrefs":[{"source":"OMIM","code":"133780","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"9B71.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"947283385"},{"source":"MONDO","code":"0006952","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0035344","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5695","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038933","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":[{"symbol":"FZD4","name":"frizzled class receptor 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23441120[PMID]","hgnc":"4042","ensembl":"ENSG00000174804","omim":"604579","loci":["11q14.2"]},{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23441120[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]},{"symbol":"NDP","name":"norrin cystine knot growth factor NDP","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20301506[PMID]","hgnc":"7678","ensembl":"ENSG00000124479","omim":"300658","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-11","source":"32965990[PMID]_28420777[PMID]_3839410[PMID]","terms":[{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500049","label":"Retinopathy of prematurity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Occasional (29-5%)","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:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001136","label":"Retinal arteriolar tortuosity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007917","label":"Tractional retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}