{"orpha":98974,"name":"Fuchs endothelial corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Endoepithelial corneal dystrophy","FECD","Late hereditary endothelial dystrophy"],"definition":"A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98974/","orphanet_url":"https://www.orpha.net/en/disease/detail/98974","names":{"fr":{"name":"Dystrophie cornéenne endothéliale de Fuchs","synonyms":["Dystrophie cornéenne endoépithéliale","Dystrophie endothéliale héréditaire tardive","FECD"],"definition":"La dystrophie cornéenne endothéliale de Fuchs est la forme la plus fréquente de dystrophie cornéenne postérieure et est caractérisée par des excroissances de la membrane de Descemet déjà épaissie (corneal guttae), un oedème cornéen généralisé, et une réduction progressive de l'acuité visuelle."},"de":{"name":"Endotheliale Hornhautdystrophie Fuchs","synonyms":["FECD","Hornhautdystrophie, endo-epitheliale"],"definition":"Die Endotheliale Hornhautdystrophie Fuchs (FECD) ist die häufigste Form der hinteren Hornhautdystrophie (s. dort) und gekennzeichnet durch Auswüchse auf der verdickten Descemet-Membran (Hornhaut-Tropfen), generalisiertes Hornhautödem und graduell verminderte Sehschärfe."},"es":{"name":"Distrofia corneal endotelial de Fuchs","synonyms":["FECD","Distrofia corneal endoepitelial","Distrofia endotelial hereditaria tardía"],"definition":"Es la forma más frecuente de distrofia corneal posterior y se caracteriza por excrecencias en una engrosada membrana de Descemet (corneal guttae), edema corneal generalizado, y por una agudeza visual que disminuye gradualmente."},"it":{"name":"Distrofia corneale endoteliale di Fuchs","synonyms":["Distrofia corneale endoepiteliale","Distrofia endoteliale ereditaria tardiva","FECD"],"definition":"La distrofia corneale endoteliale di Fuchs (FECD) è la forma più frequente di distrofia corneale posteriore (si veda questo termine); è caratterizzata da escrescenze (gutte corneali) sulla membrana di Descemet, che è ispessita, e da edema corneale generalizzato, che provoca una diminuzione progressiva dell'acuità visiva."},"nl":{"name":"Endotheliale corneadystrofie van Fuchs","synonyms":["Endo-epitheliale corneadystrofie","FECD","Late erfelijke endotheliale dystrofie"],"definition":"De meest frequente vorm van posterieure corneadystrofie, gekarakteriseerd door uitwassen op een verdikt membraan van Descemet (guttae van hoornvlies), gegeneraliseerd corneaoedeem, met geleidelijke afname van gezichtsscherpte."},"pt":{"name":"Distrofia corneana, endotelial de Fuchs"},"pl":{"name":"Dystrofia śródbłonka rogówki Fuchsa","synonyms":["Dystrofia śródbłonka rogówki","FECD","Późna dziedziczna dystrofia śródbłonka"],"definition":"Dystrofia śródbłonka rogówki Fuchsa (FECD) jest najczęstszą postacią dystrofii tylnej rogówki (zob. to hasło) i cechuje się zmianami typu „corneal guttae” (rogówka nakrapiana) na pogrubionej błonie Descemeta, uogólnionym obrzękiem rogówki, ze stopniowo zmniejszającą się ostrością wzroku."},"cs":{"name":"Fuchsova endotelová dystrofie rohovky","synonyms":["Endoepitelová dystrofie rohovky","FECD","Pozdní hereditární endotelová dystrofie"]},"uk":{"name":"Ендотеліальна дистрофія рогівки Фукса","synonyms":["Ендоепітеліальна дистрофія рогівки","FECD","Пізня спадкова ендотеліальна дистрофія"],"definition":"A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity."},"zh":{"name":"Fuchs角膜内皮营养不良","synonyms":["晚发遗传性内皮营养不良"],"definition":"该病是一种最常见的后部角膜营养不良疾病，其特征是后弹力膜增厚(角膜小滴)过度，广泛性角膜水肿，伴随视力逐渐下降。"},"tr":{"name":"Fuchs endotelyal korneal distrofi","synonyms":["FECD","Endepitelyal korneal distrofi","Geç kalıtsal endotelyal distrofi"]}},"xrefs":[{"source":"OMIM","code":"136800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610158","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613267","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613268","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613269","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613270","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613271","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615523","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9A70.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"751091713"},{"source":"MONDO","code":"0005321","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016781","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10018","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98627,"name":"Posterior corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ZEB1","name":"zinc finger E-box binding homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20036349[PMID]","hgnc":"11642","ensembl":"ENSG00000148516","omim":"189909","loci":["10p11.22"]},{"symbol":"AGBL1","name":"AGBL carboxypeptidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24094747[PMID]","hgnc":"26504","ensembl":"ENSG00000273540","omim":"615496","loci":["15q25.3"]},{"symbol":"COL8A2","name":"collagen type VIII alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18464802[PMID]","hgnc":"2216","ensembl":"ENSG00000171812","omim":"120252","loci":["1p34.3"]},{"symbol":"SLC4A11","name":"solute carrier family 4 member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20848555[PMID]","hgnc":"16438","ensembl":"ENSG00000088836","omim":"610206","loci":["20p13"]},{"symbol":"TCF4","name":"transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23185296[PMID]","hgnc":"11634","ensembl":"ENSG00000196628","omim":"602272","loci":["18q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"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":"2021-10-26","source":"31215821[PMID]_31267087[PMID]_31263352[PMID]","terms":[{"hpo":"HP:0011490","label":"Abnormal Descemet membrane morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011488","label":"Abnormal corneal endothelium morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011491","label":"Reduced number of corneal endothelial cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030857","label":"Eye movement-induced pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null}]}}