{"orpha":98969,"name":"Macular corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Corneal dystrophy Groenouw type II","Fehr corneal dystrophy","MCD"],"definition":"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98969/","orphanet_url":"https://www.orpha.net/en/disease/detail/98969","names":{"fr":{"name":"Dystrophie cornéenne maculaire","synonyms":["Dystrophie cornéenne de Fehr","Dystrophie cornéenne de Groenouw type II","MCD"],"definition":"La dystrophie cornéenne maculaire (MCD) est une forme de dystrophie cornéenne rare et grave, caractérisée par des zones nuageuses bilatérales mal définies sur un stroma trouble, suivie d'une détérioration de la vision."},"de":{"name":"Hornhautdystrophie, makuläre","synonyms":["Fehr-fleckige Hornhautdystrophie","Groenouw-Hornhautdystrophie Typ II","MCD"],"definition":"Die Makuläre Hornhautdystrophie (MCD) ist eine seltene und schwere Form der Stroma-Hornhautdystrophie (s. dort) und gekennzeichnet durch beidseitige, wenig differenzierte wolkige Bereiche im verschleierten Stroma mit eventuell schwerer Beeinträchtigung des Visus."},"es":{"name":"Distrofia corneal macular","synonyms":["Distrofia corneal de Fehr","Distrofia corneal de Groenouw tipo II"],"definition":"La distrofia corneal macular (MCD) es una forma rara y grave de distrofia corneal estromal (consulte este término) caracterizada por zonas nebulosas, bilaterales y poco definidas dentro de un estroma nebuloso y, finalmente, discapacidad visual grave."},"it":{"name":"Distrofia corneale maculare","synonyms":["Distrofia corneale di Fehr","Distrofia corneale di Groenouw, tipo II","MCD"],"definition":"La distrofia corneale maculare (MCD) è una forma rara e grave di distrofia corneale stromale (si veda questo termine), caratterizzata da regioni opache bilaterali scarsamente definite all'interno di uno stroma velato, occasionalmente associato a grave deficit visivo."},"nl":{"name":"Maculaire corneadystrofie","synonyms":["Corneadystrofie van Fehr","Corneadystrofie, Groenouw-type II","MCD","Maculaire hoornvliesdystrofie"],"definition":"Maculaire corneadystrofie (MCD) is een zeldzame, ernstige vorm van stromale corneadystrofie (zie deze term), gekenmerkt door bilaterale, slecht gedefinieerde, troebele gebieden in een wazig stroma en eventueel een ernstige achteruitgang van het gezichtsvermogen."},"pt":{"name":"Distrofia corneana, tipo macular"},"pl":{"name":"plamkowata dystrofia rogówki","synonyms":["Dystrofia rogówki Fehra","Dystrofia rogówki Groenouwa typu II","MCD"]},"cs":{"name":"Makulární dystrofie rohovky","synonyms":["Fehrové dystrofie rohovky","MCD","Dystrofie rohovky, Groenouwův typ II"]},"uk":{"name":"Макулярна дистрофія рогівки","synonyms":["Дистрофія рогівки Гренуя типу II","Дистрофія рогівки Фера","MCD"],"definition":"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment."},"zh":{"name":"斑点状角膜营养不良","synonyms":["Groenouw II型角膜营养不良"],"definition":"黄斑性角膜营养不良(MCD)是一种罕见的严重的间质性角膜营养不良(见该词条)，其特征是双侧模糊的间质内的云状区，最终导致严重的视力障碍。"},"tr":{"name":"Maküler kornea distrofisi","synonyms":["MCD","Fehr korneal distrofi","Korneal distrofi Groenouw tip II"]}},"xrefs":[{"source":"OMIM","code":"217800","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":"791344343"},{"source":"MONDO","code":"0009020","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024439","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6953","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10025406","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":"CHST6","name":"carbohydrate sulfotransferase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11017086[PMID]_19365571[PMID]","hgnc":"6938","ensembl":"ENSG00000183196","omim":"605294","loci":["16q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Not yet validated","source":"21791583[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-11","source":"30716718[PMID]_29604391[PMID]_6447876[PMID]_13790593[PMID]","terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000531","label":"Corneal crystals","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007856","label":"Punctate opacification of the cornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100689","label":"Decreased corneal thickness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012155","label":"Decreased corneal sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000484","label":"Hyperopic astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null}]}}