{"orpha":98970,"name":"Fleck corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FCD","François-Neetens speckled corneal dystrophy"],"definition":"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98970/","orphanet_url":"https://www.orpha.net/en/disease/detail/98970","names":{"fr":{"name":"Dystrophie cornéenne mouchetée","synonyms":["Dystrophie cornéenne mouchetée de François-Neetens","FCD"],"definition":"La dystrophie cornéenne mouchetée (FCD) est une forme rare et généralement asymptomatique de dystrophie cornéenne stromale caractérisée par de nombreuses opacités asymptomatiques et non-progressives disséminée sur le stroma cornéen, et sans impact sur la vision."},"de":{"name":"Fleckchen-Hornhautdystrophie","synonyms":["FCD","François-Neetens fleckige Hornhautdystrophie"],"definition":"Die Fleckchen-Hornhautdystrophie (FCD) ist eine seltene, in der Regel symptomlose Form der Stroma-Hornhautdystrophie (s. dort) und gekennzeichnet durch multiple symptomlose, nichtprogrediente und über das gesamte Hornhautstroma verteilte Trübungen, die keine Auswirkung auf die Sehkraft haben."},"es":{"name":"Distrofia corneal moteada","synonyms":["Distrofia corneal moteada de François-Neetens","Distrofia moteada de la córnea","FCD"],"definition":"La distrofia corneal moteada (FCD) es una forma rara, generalmente asintomática, de distrofia corneal estromal (consulte este término) caracterizada por múltiples opacidades asintomáticas no progresivas, diseminadas por todo el estroma corneal, y que no tienen efecto en la agudeza visual."},"it":{"name":"Distrofia corneale a macchie","synonyms":["Distrofia corneale a macchie di François-Neetens","FCD"],"definition":"La distrofia corneale a macchie (FCD) è una forma rara, generalmente asintomatica, di distrofia stromale della cornea (si veda questo termine), caratterizzata da opacità non progressive disseminate lungo lo stroma della cornea, che non compromettono l'acuità visiva."},"nl":{"name":"Corneadystrofie van Fleck","synonyms":["FCD","Gespikkelde corneadystrofie van François-Neetens","Hoornvliesdystrofie van Fleck"],"definition":"Corneadystrofie van Fleck (FCD) is een zeldzame, meestal asymptomatische vorm van stromale corneadystrofie (zie deze term) gekenmerkt door meerdere, asymptomatische, niet-progressieve opaciteiten verspreid over het corneastroma en zonder enig effect op de gezichtsscherpte."},"pt":{"name":"Distrofia corneana mosqueada, tipo Francois-Neetens"},"pl":{"name":"plamkowa dystrofia rogówki","synonyms":["FCD","plamista dystrofia rogówki François i Neetensa"]},"cs":{"name":"Fleck dystrofie rohovky","synonyms":["FCD","Françoisova-Neetensova skvrnitá dystrofie rohovky"]},"uk":{"name":"Флективна дистрофія рогівки","synonyms":["FCD","Крапчаста дистрофія рогівки Франсуа-Нітенса"],"definition":"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity."},"zh":{"name":"FLECK角膜营养不良","synonyms":["François-Neetens斑点状角膜营养不良"],"definition":"斑状角膜营养不良(FCD)是一种罕见、通常无症状的间质性角膜营养不良(见该词条)，其特征是在角膜基质中出现多发性无症状、非进行性的浑浊弥漫，对视力没有影响。"},"tr":{"name":"Fleck korneal distrofisi","synonyms":["FCD","François-Neetens benekli korneal distrofi"]}},"xrefs":[{"source":"OMIM","code":"121850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"607143324"},{"source":"MONDO","code":"0007376","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563256","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1562113","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98626,"name":"Stromal corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PIKFYVE","name":"phosphoinositide kinase, FYVE-type zinc finger containing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22065932[PMID]_26396486[PMID]","hgnc":"23785","ensembl":"ENSG00000115020","omim":"609414","loci":["2q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"139144[PMID]_7950337[PMID]_141212[PMID]_14078376[PMID]_10660318[PMID]_19948560[PMID]_22065932[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}