{"orpha":98956,"name":"Epithelial basement membrane dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anterior basement membrane dystrophy","Cogan microcystic epithelial dystrophy","EBMD","Map-dot-fingerprint dystrophy"],"definition":"A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98956/","orphanet_url":"https://www.orpha.net/en/disease/detail/98956","names":{"fr":{"name":"Dystrophie cornéenne de la membrane basale","synonyms":["Dystrophie en empreintes digitales","Dystrophie épithéliale microkystique de Cogan","Dystrophie cornéenne de la membrane basale épithéliale"],"definition":"Dystrophie cornéenne rare caractérisée par un épaississement et une redondance des lames de la membrane basale s'étendant vers l'épithélium cornéen, ainsi que par des lacunes intra-épithéliales remplies de débris cellulaires, formant un motif dit en « carte-points-empreintes digitales » à l'examen à la lampe à fente. Les patients peuvent être asymptomatiques ou présenter des épisodes récurrents d'érosions cornéennes douloureuses avec une déficience visuelle variable, commençant généralement après l'âge de 30 ans. L'atteinte est bilatérale et peut être transmise sur le mode autosomique dominant."},"de":{"name":"Basalmembrandystrophie, epitheliale","synonyms":["Basalmembrandystrophie, anteriore","EBMD","Epitheldystrophie, mikrozystische, Cogan","Map-Dot-Fingerprint-Dystrophie"],"definition":"Eine seltene Hornhautdystrophie, die durch verdickte, überschüssige Basalmembranschichten, die sich in das Hornhautepithel erstrecken, und intraepitheliale Lakunen, die mit Zelltrümmern gefüllt sind, gekennzeichnet ist und bei der Spaltlampenuntersuchung als Muster von \"Karten\", \"Punkten\" und \"Fingerabdrücken\" erscheint. Die Patienten können asymptomatisch sein oder wiederkehrende Episoden schmerzhafter Hornhauterosionen mit unterschiedlicher Sehschärfe aufweisen, die typischerweise nach dem dreißigsten Lebensjahr beginnen. Die Erkrankung tritt beidseitig auf und kann autosomal-dominant vererbt werden."},"es":{"name":"Distrofia de la membrana basal epitelial","synonyms":["Distrofia de la membrana basal anterior","Distrofia epitelial microquística de Cogan","Distrofia mapa-punto-huella dactilar","EBMD"],"definition":"Es una distrofia corneal poco frecuente caracterizada por láminas de membrana basal engrosadas redundantes que se extienden hacia el epitelio corneal, así como lagunas intraepiteliales con restos celulares, que en conjunto se presentan como un patrón \"en mapa\", \"puntos\" y \"huellas dactilares'' en el examen con lámpara de hendidura. Los pacientes pueden permanecer asintomáticos o presentar episodios recurrentes de erosiones corneales dolorosas con afectación visual variable, que generalmente comienzan después de los treinta años de edad. La afección es bilateral y puede heredarse de forma autosómica dominante."},"it":{"name":"Distrofia epiteliale della membrana basale","definition":"Si tratta di una distrofia rara della cornea, caratterizzata dall'ispessimento ridondante dei foglietti della membrana basale che si estendono verso l'epitelio della cornea, e da lacune intraepiteliali contenenti detriti cellulari che, all'esame con la lampada a fessura, mostrano un aspetto a \"mappe\", \"punti\" e \"impronte digitali\". I pazienti possono essere asintomatici o presentare episodi ricorrenti di erosioni corneali dolorose con deficit visivo variabile, che in genere esordiscono dopo i trent'anni. La malattia è bilaterale. La trasmissione è autosomica dominante."},"nl":{"name":"Epitheliale basale membraan-dystrofie","synonyms":["Anterieure basale membraan-dystrofie","EBMD","Map-dot-fingerprint dystrofie","Microcystische epitheliale dystrofie van Cogan"],"definition":"Een zeldzame corneadystrofie, gekarakteriseerd door verdikte, redundante vellen van basale membraan die reiken tot in cornea-epitheel, alsook intra-epitheliale holtes gevuld met celdebris, die zich samen presenteren als een patroon van ''landkaartachtige patronen ('maps')'', ''puntachtige troebelingen ('dots')'', en ''vingerafdrukachtige lijnen ('fingerprints')'' bij spleetlamponderzoek. Patiënten kunnen asymptomatisch zijn of zich presenteren met recidiverende episodes van pijnlijke erosie van cornea met variabel verlies van gezichtsvermogen, doorgaans met aanvang na de leeftijd van 30 jaar. De aandoening is bilateraal en kan op autosomaal dominante manier overgeërfd worden."},"pt":{"name":"Distrofia corneana, microquística"},"pl":{"name":"Mikrotorbielowata dystrofia rogówki","synonyms":["Anterior basement membrane dystrophy","Cogan microcystic epithelial dystrophy","EBMD","Map-dot-fingerprint dystrophy"]},"cs":{"name":"Mikrocystická dystrofie rohovky","synonyms":["Anterior basement membrane dystrophy","Cogan microcystic epithelial dystrophy","EBMD","Map-dot-fingerprint dystrophy"]},"uk":{"name":"Дистрофія епітеліальної базальної мембрани","synonyms":["Дистрофія передньої базальної мембрани","Мікрокістозна епітеліальна дистрофія Когана","EBMD","Картографічна точкова дактилоскопічна дистрофія"],"definition":"A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner."},"zh":{"name":"上皮基底膜营养不良","synonyms":["Cogan微囊性上皮营养不良"]},"tr":{"name":"Epitel bazal membran distrofisi","synonyms":["EBMD","Harita-nokta parmak izi distrofisi","Anterior bazal membran distrofisi","Cogan mikrokistik epitel distrofisi"]}},"xrefs":[{"source":"OMIM","code":"121820","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":"1154418731"},{"source":"MONDO","code":"0007375","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535477","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0521723","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9732","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":"16652336[PMID]","hgnc":"11771","ensembl":"ENSG00000120708","omim":"601692","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}