{"orpha":98961,"name":"Reis-Bücklers corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anterior limiting membrane dystrophy type 1","Anterior limiting membrane dystrophy type I","Atypical granular corneal dystrophy","Corneal dystrophy of Bowman layer type 1","Corneal dystrophy of Bowman layer type I","Geographic corneal dystrophy","Granular corneal dystrophy type 3","Granular corneal dystrophy type III","RBCD","Superficial granular corneal dystrophy"],"definition":"Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98961/","orphanet_url":"https://www.orpha.net/en/disease/detail/98961","names":{"fr":{"name":"Dystrophie cornéenne de Reis-Bücklers","synonyms":["Dystrophie cornéenne de Bowman type 1","Dystrophie cornéenne de Bowman type I","Dystrophie cornéenne en carte géographique","Dystrophie cornéenne granulaire atypique","Dystrophie cornéenne granulaire superficielle","Dystrophie cornéenne granulaire type 3","Dystrophie cornéenne granulaire type III","RBCD"],"definition":"La dystrophie cornéenne de Reis-Bücklers (RBCD), aussi connue sous le nom de dystrophie cornéenne granulaire superficielle, est une forme rare de dystrophie cornéenne superficielle caractérisée par des opacités réticulaires symétriques bilatérales sur la cornée centrale superficielle, avec une détérioration progressive de la vision."},"de":{"name":"Reis-Bücklers-Hornhautdystrophie","synonyms":["Geografische Hornhautdystrophie","Hornhautdystrophie der Bowman-Lamelle Typ 1","Hornhautdystrophie der Bowman-Lamelle Typ I","Hornhautdystrophie, atypische granuläre","Hornhautdystrophie, granuläre, Typ 3","Hornhautdystrophie, granuläre, Typ III","Oberflächliche granuläre Hornhautdystrophie","RBCD","Vordere limitierende Membrandystrophie Typ I"],"definition":"Die Hornhautdystrophie Reis-Bücklers (RBCD), auch als granuläre Hornhautdystrophie Typ III bekannt, ist eine seltene Form der oberflächlichen Hornhautdystrophie und gekennzeichnet durch beidseitig symmetrische netzförmige Trübungen in der oberflächlichen zentralen Kornea mit progredienter Beeinträchtigung des Visus."},"es":{"name":"Distrofia corneal de Reis-Bücklers","synonyms":["Distrofia corneal de la membrana de Bowman tipo 1","Distrofia corneal de la membrana de Bowman tipo I","Distrofia corneal geográfica","Distrofia corneal granular atípica","Distrofia corneal granular superficial","Distrofia corneal granular tipo 3","Distrofia corneal granular tipo III","Distrofia de la membrana limitante anterior tipo 1","Distrofia de la membrana limitante anterior tipo I","RBCD"],"definition":"La distrofia corneal de Reis-Bücklers (RBCD), también conocida como distrofia corneal granular tipo III, es una forma rara de distrofia corneal superficial caracterizada por opacidades reticulares simétricas bilaterales en la córnea central superficial, con un deterioro visual progresivo."},"it":{"name":"Distrofia corneale di Reis-Bûcklers","synonyms":["Distrofia corneale a cartina geografica","Distrofia corneale della membrana di Bowman, tipo I","Distrofia corneale granulare atipica","Distrofia corneale granulare superficiale","Distrofia corneale granulare, tipo III","Distrofia della membrana limitante anteriore, tipo I","RBCD"],"definition":"La distrofia corneale di Reis-Bücklers (RBCD), nota anche come distrofia corneale granulare tipo III, è una forma rara di distrofia superficiale della cornea, caratterizzata da opacità reticolari simmetriche bilaterali nella porzione superficiale e centrale della cornea, che si associa a deficit visivo progressivo."},"nl":{"name":"Corneadystrofie van Reis-Bücklers","synonyms":["Atypische granulaire corneadystrofie","Corneadystrofie van laag van Bowman type 1","Corneadystrofie van laag van Bowman type I","Dystrofie van anterieure grensmembraan type 1","Dystrofie van anterieure grensmembraan type I","Geografische corneadystrofie","Granulaire corneadystrofie type 3","Granulaire corneadystrofie type III","Hoornvliesdystrofie van Reis-Bücklers","Oppervlakkige granulaire corneadystrofie","RBCD"],"definition":"Corneadystrofie van Reis-Bücklers (RBCD), ook bekend als granulaire corneadystrofie type III, is een zeldzame vorm van oppervlakkige corneadystrofie gekenmerkt door bilaterale symmetrische reticulaire opaciteiten in de oppervlakkige centrale cornea, met progressieve visuele achteruitgang."},"pt":{"name":"Distrofia corneana, tipo Reis-Buckler"},"pl":{"name":"Dystrofia rogówki Reisa i Bücklersa","synonyms":["RBCD","Geograficzna dystrofia rogówki","Ziarnista dystrofia rogówki typu 3","Atypowa ziarnista dystrofia rogówki","Ziarnista dystrofia rogówki typu III","Powierzchowna ziarnista dystrofia rogówki","Dystrofia rogówki warstwy Bowmana typu 1","Dystrofia rogówki warstwy Bowmana typu I","Dystrofia błony granicznej przedniej typu 1","Dystrofia błony granicznej przedniej typu I"],"definition":"Dystrofia rogówki Reisa i Bücklersa (RBCD), znana również jako ziarnista dystrofia rogówki typu III, jest rzadką postacią dystrofii powierzchownej rogówki, charakteryzującą się obustronnymi symetrycznymi siatkowatymi zmętnieniami w powierzchownej centralnej części rogówki, z postępującym upośledzeniem wzroku."},"cs":{"name":"Reisova-Bücklerova dystrofie rohovky","synonyms":["Dystrofie membrana limitans anterior, typ I","Atypická granulární dystrofie rohovky","Dystrofie Bowmanovy vrstvy rohovky, typ I","Geografická dystrofie rohovky","Granulární dystrofie rohovky, typ III","RBCD","Povrchová granulární dystrofie rohovky","Reis-Bücklerova dystrofie rohovky"]},"uk":{"name":"Дистрофія рогівки Рейса-Бюклерса","synonyms":["Дистрофія передньої лімбічної мембрани, тип 1","Дистрофія передньої лімбічної мембрани I типу","Атипова зерниста дистрофія рогівки","Дистрофія рогівки шару Боумена типу 1","Дистрофія рогівки шару Боумена I типу","Географічна дистрофія рогівки","Зерниста дистрофія рогівки 3 типу","Гранулярна дистрофія рогівки III типу","RBCD","Поверхнева зерниста дистрофія рогівки"],"definition":"Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment."},"zh":{"name":"Reis-Bücklers角膜营养不良","synonyms":["前界膜角膜营养不良I型"],"definition":"Reis-B³ckler角膜营养不良(RBCD)，又称颗粒状角膜营养不良III型，是一种罕见的浅表性角膜营养不良，其特征是中央角膜浅层出现双侧对称性网状混浊，并伴有进行性视力障碍。"},"tr":{"name":"Reis-Bücklers korneal distrofi","synonyms":["RBCD","Coğrafi kornea distrofisi","Granüler kornea distrofisi tip 3","Atipik granüler kornea distrofisi","Granüler korneal distrofi tip III","Yüzeysel granüler korneal distrofi","Bowman tabakası tip 1'in kornea distrofisi","Bowman tabakası tip I'in kornea distrofisi","Anterior sınırlayıcı membran distrofi tip 1","Anterior sınırlayıcı membran distrofi tip I"]}},"xrefs":[{"source":"OMIM","code":"608470","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":"99331629"},{"source":"MONDO","code":"0012043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339278","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9276","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":"20360992[PMID]","hgnc":"11771","ensembl":"ENSG00000120708","omim":"601692","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":81.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}