{"orpha":98960,"name":"Thiel-Behnke corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anterior limiting membrane dystrophy type 2","Anterior limiting membrane dystrophy type II","Corneal dystrophy of Bowman layer type 2","Corneal dystrophy of Bowman layer type II","Curly fiber corneal dystrophy","Honeycomb corneal dystrophy","TBCD","Waardenburg-Jonker corneal dystrophy"],"definition":"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98960/","orphanet_url":"https://www.orpha.net/en/disease/detail/98960","names":{"fr":{"name":"Dystrophie cornéenne de Thiel-Behnke","synonyms":["Dystrophie cornéenne de Waardenburg-Jonker","Dystrophie cornéenne de la membrane de Bowman type 2","Dystrophie cornéenne de la membrane de Bowman type II","Dystrophie cornéenne en rayon de miel","Dystrophie de la membrane limitante antérieure type 2","Dystrophie de la membrane limitante antérieure type II","TBCD"],"definition":"La dystrophie de Thiel-Behnke (TBCD) est une forme rare de dystrophie cornéenne superficielle caractérisée par des opacités cornéennes sous-épithéliales en « rayon de miel » sur la cornée superficielle, et une détérioration progressive de la vision."},"de":{"name":"Thiel-Behnke-Hornhautdystrophie","synonyms":["Hornhautdystrophie Waardenburg-Jonker","Hornhautdystrophie der Bowman-Lamelle Typ 2","Hornhautdystrophie der Bowman-Lamelle Typ II","Hornhautdystrophie mit gewundenen Filamenten","TBCD","Vordere limitierende Membrandystrophie Typ II","Wabenförmige Hornhautdystrophie"],"definition":"Die Hornhautdystrophie Thiel-Behnke (TBCD) ist eine seltene Form der oberflächlichen Hornhautdystrophie und gekennzeichnet durch subepitheliale honigwaben-förmige Trübungen in der oberflächlichen Kornea und durch zunehmende Beeinträchtigung des Visus."},"es":{"name":"Distrofia corneal de Thiel-Behnke","synonyms":["Distrofia de la membrana limitante anterior tipo II","TBCD","Distrofia corneal con fibras rizadas","Distrofia corneal de Waardenburg-Jonker","Distrofia corneal de la capa de Bowman tipo 2","Distrofia corneal de la capa de Bowman tipo II","Distrofia corneal en panal de miel","Distrofia de la membrana limitante anterior tipo 2"],"definition":"La distrofia corneal de Thiel-Behnke (TBCD) es una forma rara de distrofia corneal superficial caracterizada por opacidades corneales subepiteliales con forma de panal en la superficie de la córnea, y deterioro visual progresivo."},"it":{"name":"Distrofia corneale di Thiel-Behnke","synonyms":["Distrofia corneale a nido d'api","Distrofia corneale con fibre a spirale","Distrofia corneale della membrana di Bowman, tipo II","Distrofia corneale di Waardenburg-Jonker","Distrofia della membrana limitante anteriore, tipo II","TBCD"],"definition":"La distrofia corneale di Thiel-Behnke (TBCD) è una forma rara di distrofia superficiale della cornea, caratterizzata da opacità corneali sottoepiteliali a nido d'api nella porzione superficiale della cornea e deficit visivo progressivo."},"nl":{"name":"Corneadystrofie van Thiel-Behnke","synonyms":["\"Curly fiber\" corneadystrofie","Corneadystrofie van laag van Bowman type 2","Corneadystrofie van laag van Bowman type II","Dystrofie van anterieur grensmembraan type 2","Dystrofie van anterieur grensmembraan type II","Honingraat-corneadystrofie","TBCD","Waardenburg-Jonker-corneadystrofie"],"definition":"Corneadystrofie van Thiel-Behnke (TBCD) is een zeer zeldzame vorm van oppervlakkige corneadystrofie gekenmerkt door subepitheliale honingraatvormige opaciteiten in de oppervlakkige cornea, en een progressieve visuele achteruitgang."},"pt":{"name":"Distrofia corneana, tipo Thiel-Behnke"},"pl":{"name":"Dystrofia rogówki Thiela i Behnkego","synonyms":["TBCD","Dystrofia rogówki typu \"plastra miodu","Dystrofia rogówki skręconych włókien","Dystrofia rogówki Waardenburga i Jonkera","Dystrofia rogówki warstwy Bowmana typu 2","Dystrofia rogówki warstwy Bowmana typu II","Dystrofia błony granicznej przedniej typu 2","Dystrofia błony granicznej przedniej typu II"],"definition":"Dystrofia rogówki Thiela i Behnkego (TBCD) jest rzadką postacią dystrofii powierzchownej rogówki, charakteryzującą się podnabłonkowymi zmętnieniami rogówki w kształcie plastra miodu w powierzchownej części rogówki oraz postępującą wadą wzroku."},"cs":{"name":"Thielova-Behnkeho dystrofie rohovky","synonyms":["Dystrofie membrana limitans anterior, typ II","Dystrofie Bowmanovy vrstvy, typ II","Rohovková dystrofie vlnitých vláken","Voštinovitá dystrofie rohovky","TBCD","Waardenburgova-Jonkerova dystrofie rohovky","Thiel-Behnkeho dystrofie rohovky","Waardenburg-Jonkerova dystrofie rohovky"]},"uk":{"name":"Дистрофія рогівки Тіль-Бенке","synonyms":["Дистрофія передньої лімбічної мембрани 2 типу","Дистрофія передньої лімбічної мембрани II типу","Дистрофія рогівки шару Боумена 2 типу","Дистрофія рогівки шару Боумена II типу","Кучерява волокниста дистрофія рогівки","Стільникова дистрофія рогівки","TBCD","Дистрофія рогівки Ваарденбурга-Йонкера"],"definition":"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment."},"zh":{"name":"Thiel-Behnke角膜营养不良","synonyms":["前界膜角膜营养不良II型"],"definition":"Thiel-Behnke角膜营养不良(TBCD)是一种罕见的浅表性角膜营养不良，其特征是角膜浅层上皮下蜂窝状混浊，并伴有进行性视力障碍。"},"tr":{"name":"Thiel-Behnke korneal distrofisi","synonyms":["TBCD","Petek kornea distrofisi","Kıvırcık lif korneal distrofi","Waardenburg-Jonker korneal distrofi","Bowman tabakası tip 2'nin kornea distrofisi","Bowman tabakası tip II'nin kornea distrofisi","Anterior sınırlayıcı membran distrofi tip 2","Anterior sınırlayıcı membran distrofisi tip II"]}},"xrefs":[{"source":"OMIM","code":"602082","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":"2082568100"},{"source":"MONDO","code":"0011185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535942","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1562894","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522562,"name":"Genetic superficial corneal dystrophy","classifications":[156]},{"orpha":98625,"name":"Superficial corneal dystrophy","classifications":[189]}],"children":[],"genes":[{"symbol":"TGFBI","name":"transforming growth factor beta induced","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26464103[PMID]","hgnc":"11771","ensembl":"ENSG00000120708","omim":"601692","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":173.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-09","source":"31301286[PMID]_32491788[PMID]","terms":[{"hpo":"HP:0007881","label":"Central corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008039","label":"Subepithelial corneal opacities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032148","label":"Episodic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null}]}}