{"orpha":98625,"name":"Superficial corneal dystrophy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Anterior corneal dystrophy"],"definition":"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98625/","orphanet_url":"https://www.orpha.net/en/disease/detail/98625","names":{"fr":{"name":"Dystrophie cornéenne superficielle","synonyms":["Dystrophie cornéenne antérieure"],"definition":"La dystrophie cornéenne (DC) superficielle est un groupe de dystrophies cornéennes génétiques rares caractérisé par des lésions impliquant l'épithélium cornéen et sa membrane basale, et la couche superficielle du stroma, ainsi que des effets variables sur la vision selon le type de dystrophie."},"de":{"name":"Hornhautdystrophie, superfizielle","synonyms":["Vordere Hornhautdystrophie","Oberflächliche Hornhautdystrophie"],"definition":"Die oberflächlichen Hornhautdystrophien umfassen eine Gruppe seltener genetisch determinierter Hornhautdystrophien (CDs) und sind gekennzeichnet durch Läsionen des Hornhautepithels, seiner Basalmembran und des oberflächlichen Hornhautstromas. Je nach dem Typ der Dystrophie sind die Auswirkungen auf den Visus unterschiedlich."},"es":{"name":"Distrofia corneal superficial","synonyms":["Distrofia corneal anterior"],"definition":"La distrofia corneal superficial engloba un grupo de distrofias corneales (DC) raras genéticamente determinadas caracterizadas por lesiones que afectan al epitelio de la córnea y su membrana basal, y al estroma corneal superficial, y con efectos en la visión variables en función del tipo de distrofia."},"it":{"name":"Distrofia corneale superficiale","synonyms":["Disstrofia corneale anteriore"],"definition":"Con il termine di distrofia corneale superficiale si intende un gruppo di distrofie corneali (DCs) genetiche rare (DCs), caratterizzate da lesioni dell'epitelio corneale, della sua membrana basale e dello stroma corneale superficiale, che hanno implicazioni sulla vista di diversa entità, a seconda del tipo di distrofia."},"nl":{"name":"Oppervlakkige corneadystrofie","synonyms":["Anterieure corneadystrofie"],"definition":"De oppervlakkige corneadystrofieën verwijzen naar een groep zeldzame genetisch bepaalde corneadystrofieën (CD's), gekenmerkt door laesies die het cornea-epitheel en zijn basaal membraan en het oppervlakkige corneastroma aantasten, en met wisselende effecten op het gezichtsvermogen, afhankelijk van het type dystrofie."},"pt":{"name":"Distrofia da córnea anterior"},"pl":{"name":"Dystrofia powierzchowna rogówki","synonyms":["Dystrofia przednia rogówki"]},"cs":{"name":"Superficiální dystrofie rohovky","synonyms":["Přední dystrofie rohovky"]},"uk":{"name":"Поверхнева дистрофія рогівки","synonyms":["Передня дистрофія рогівки"],"definition":"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy."},"zh":{"name":"浅层角膜营养不良","synonyms":["角膜前部营养不良"],"definition":"浅层角膜营养不良是指一组罕见的由基因决定的角膜营养不良(CDs)，其特征是损害角膜上皮及其基底膜和角膜浅层基质，并根据营养不良的类型而对视力产生不同的影响。"},"tr":{"name":"Yüzeysel kornea distrofisi","synonyms":["Ön kornea distrofisi"]}},"xrefs":[{"source":"MONDO","code":"0020212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2315777","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":34533,"name":"Corneal dystrophy","classifications":[189]}],"children":[{"orpha":98958,"name":"Climatic droplet keratopathy","type":"Disease"},{"orpha":352662,"name":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome","type":"Disease"},{"orpha":98956,"name":"Epithelial basement membrane dystrophy","type":"Disease"},{"orpha":293381,"name":"Epithelial recurrent erosion dystrophy","type":"Disease"},{"orpha":98957,"name":"Gelatinous drop-like corneal dystrophy","type":"Disease"},{"orpha":293375,"name":"Grayson-Wilbrandt corneal dystrophy","type":"Disease"},{"orpha":352657,"name":"Hereditary benign intraepithelial dyskeratosis","type":"Disease"},{"orpha":98955,"name":"Lisch epithelial corneal dystrophy","type":"Disease"},{"orpha":98954,"name":"Meesmann corneal dystrophy","type":"Disease"},{"orpha":98961,"name":"Reis-Bücklers corneal dystrophy","type":"Disease"},{"orpha":98959,"name":"Subepithelial mucinous corneal dystrophy","type":"Disease"},{"orpha":98960,"name":"Thiel-Behnke corneal dystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.8,"area":"United States","status":"Not yet validated","source":"21791583[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}