{"orpha":1243,"name":"Best vitelliform macular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BMD","BVMD","Best disease","Best macular dystrophy","Early-onset vitelliform macular dystrophy","Juvenile-onset vitelliform macular dystrophy","Polymorphic vitelline macular degeneration","Vitelliform macular dystrophy type 2"],"definition":"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1243/","orphanet_url":"https://www.orpha.net/en/disease/detail/1243","names":{"fr":{"name":"Dystrophie maculaire vitelliforme de Best","synonyms":["Dégénérescence maculaire vitelliforme de Best","Dégénérescence maculaire vitelliforme infantile","Dégénérescence maculaire vitelliforme juvénile","Dégénérescence maculaire vitelliforme type 2","Maladie de Best","BMD","BVMD","Dystrophie maculaire héréditaire de Best","Dystrophie maculaire vitelliforme infantile","Dystrophie maculaire vitelliforme juvénile","Dystrophie maculaire vitelliforme type 2"],"definition":"La dystrophie maculaire vitelliforme de Best (DMVB) est une dystrophie maculaire génétique caractérisée par une perte de l'acuité visuelle centrale, une métamorphopsie et une diminution du rapport d'Arden secondairement à une lésion de type « jaune d'oeuf au plat » situé dans la région fovéale ou parafovéale."},"de":{"name":"Best vitelliforme Makuladegeneration","synonyms":["BMD","BVMD","Best Makuladegeneration","Best-Krankheit","Dystrophia vitelliformis","Früh beginnende vitelliforme Makuladystrophie","Juvenile vitelliforme Makuladystrophie","Makuladegeneration, vitelliforme, Typ 2","Polymorpe vitelline Makuladegeneration"],"definition":"Die Best Vitelliforme Makuladegeneration (BVMD) ist eine genetisch bedingte Makuladegeneration mit Verlust der zentralen Sehkraft, Metamorphopsie (veränderte Wahrnehmung von Gegenständen) und vermindertem Arden-Verhältnis im Elektrookulogramm. Ursache ist eine eigelb-ähnliche Läsion der Fovea und ihrer Umgebung."},"es":{"name":"Distrofia viteliforme macular de Best","synonyms":["BMD","BVMD","Degeneración viteliforme macular polimórfica","Distrofia macular de Best","Distrofia viteliforme macular de inicio juvenil","Distrofia viteliforme macular de inicio precoz","Distrofia viteliforme macular tipo 2","Enfermedad de Best"],"definition":"La distrofia macular viteliforme de Best (BVMD) es una distrofia macular genética caracterizada por pérdida de agudeza visual central, metamorfopsia y disminución del índice de Arden a consecuencia de una lesión en forma de yema de huevo localizada en la región foveal o parafoveal."},"it":{"name":"Distrofia maculare vitelliforme di Best","synonyms":["BMD","BVMD","Degenerazione maculare vitelliforme polimorfica","Distrofia maculare di Best","Distrofia maculare ereditaria di Best","Distrofia maculare vitelliforme a esordio giovanile","Distrofia maculare vitelliforme a esordio precoce","Distrofia maculare vitelliforme, tipo 2","Malattia di Best"],"definition":"La distrofia maculare vitelliforme di Best (BVMD) è una distrofia maculare genetica, caratterizzata dalla perdita dell'acuità visiva centrale, da metamorfopsia, e da una riduzione dell'indice di Arden, secondaria ad una lesione ''a tuorlo d'uovo'' localizzata nella regione foveale o parafoveale."},"nl":{"name":"Vitelliforme maculadystrofie van Best","synonyms":["BMD","BVMD","Maculadystrofie van Best","Polymorfe vitelline maculadystrofie","Vitelliforme maculadystrofie met juveniele aanvang","Vitelliforme maculadystrofie type 2","Vroeg beginnende vitelliforme maculadystrofie","Ziekte van Best"],"definition":"Vitelliforme maculadystrofie van Best (BVMD) is een genetische maculadystrofie die wordt gekarakteriseerd door een verlies van centrale gezichtsscherpte, metamorfopsie en een lagere Arden-ratio secundair aan een eierdooier-achtig letsel in de foveale of parafoveale regio."},"pt":{"name":"Doença de Best","synonyms":["Distrofia macular viteliforme"],"definition":"A distrofia macular viteliforme Best (DMVB) é uma distrofia macular genética caracterizada por perda da acuidade visual central, metamorfopsia e diminuição da razão de Arden secundária a uma lesão semelhante à gema de ovo localizada na região foveal ou parafoveal."},"pl":{"name":"Dystrofia plamki żółtej Besta","synonyms":["BMD","BVMD","Choroba Besta","Dystrofia plamki Besta","Dystrofia plamki żółtej o początku w wieku młodzieńczym","Dystrofia plamki żółtej o wczesnym początku","Dystrofia plamki żółtej typu 2","Polimorficzne zwyrodnienie plamki żółtej"],"definition":"Dystrofia żółtkowata plamki Besta (Best vitelliform macular dystrophy - BVMD) to genetyczna dystrofia plamki charakteryzująca się utratą ostrości widzenia centralnego, metamorfopsją i obniżeniem wskaźnika Ardena, wtórnym do ubytku podobnego do żółtka jaja kurzego o lokalizacji dołkowej lub pozadołkowej."},"cs":{"name":"Bestova viteliformní dystrofie makuly","synonyms":["BMD","BVMD","Bestova nemoc","Bestova makulární dystrofie","Viteliformní dystrofie makuly, juvenilní forma","Polymorfní vitelinní makulární degenerace","Viteliformní makulární dystrofie, typ 2","Časně nasedající viteliformní dystrofie makuly"]},"uk":{"name":"Вітелліформна макулодистрофія Беста","synonyms":["Хвороба Беста","Макулодистрофія Беста","BMD","BVMD","Ранній початок вітелліформної макулодистрофії","Ювенільна вітелліформна макулодистрофія","Поліморфна вітеллінова макулодистрофія","Вітелліформна макулодистрофія, тип 2"],"definition":"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region."},"zh":{"name":"Best卵黄样黄斑营养不良","synonyms":["青年发病型卵黄样黄斑营养不良"]},"tr":{"name":"Best vitelliform maküler distrofi","synonyms":["BMD","BVMD","Best hastalık","Best maküler distrofi","Vitelliform maküler distrofi tip 2","Erken başlangıçlı vitelliform maküler distrofi","Polimorfik vitellin maküler dejenerasyon","jüvenil başlangıçlı vitelliform maküler distrofi"]}},"xrefs":[{"source":"OMIM","code":"153700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"180417384"},{"source":"MONDO","code":"0007931","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2745945","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"182","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98114,"name":"OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717336,"name":"Rare genetic isolated progressive predominantly macular disorder","classifications":[156]},{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"BEST1","name":"bestrophin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301346[PMID]_16754206[PMID]","hgnc":"12703","ensembl":"ENSG00000167995","omim":"607854","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Denmark","status":"Validated","source":"22633354[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Sweden","status":"Validated","source":"4448697[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Denmark","status":"Validated","source":"22633354[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_22633354[PMID]_4448697[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008028","label":"Cystoid macular degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012508","label":"Metamorphopsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001139","label":"Choroideremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null}]}}