{"orpha":139455,"name":"Autosomal recessive bestrophinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Retinopathy, Burgess-Black type"],"definition":"A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139455/","orphanet_url":"https://www.orpha.net/en/disease/detail/139455","names":{"fr":{"name":"Bestrophinopathie autosomique récessive","synonyms":["Rétinopathie type Burgess-Black"],"definition":"La bestrophinopathie autosomique récessive est une dystrophie rétinienne caractérisée par une perte de la vision centrale au cours des deux premières décennies, associée à l'absence de pic en lumière à l'électro-oculogramme (EOG) et à un électrorétinogramme réduit (ERG)."},"de":{"name":"Bestrophinopathie, autosomal-rezessive","synonyms":["Retinopathie Typ Burgess-Black"]},"es":{"name":"Bestrofinopatía autosómica recesiva","synonyms":["Retinopatía tipo Burgess-Black"],"definition":"Es una distrofia retiniana caracterizada por la pérdida de la visión central en las dos primeras décadas de vida, asociada con la ausencia de una elevación del potencial basal en respuesta a la luz en el electrooculograma (EOG) y una respuesta reducida al estímulo luminosos en el electrorretinograma (ERG)."},"it":{"name":"Bestrofinopatia autosomica recessiva","synonyms":["Retinopatia, tipo Burgess-Black"],"definition":"La bestrofinopatia autosomica recessiva (ARB) è una distrofia retinica caratterizzata dalla perdita della visione centrale nelle prime due decadi di vita, associata al mancato raggiungimento del massimo potenziale di risposta alla luce all'elettro-oculogramma (EOG) e ad un elettroretinogramma (ERG) ridotto."},"nl":{"name":"Autosomaal recessieve bestrofinopathie","synonyms":["Retinopathie, Burgess-Black-type"],"definition":"Een zeldzame retinadystrofie, gekarakteriseerd door verlies van centraal zicht tijdens de eerste 2 levensdecennia, geassocieerd met afwezigheid van de lichtpiek op een elektro-oculogram (EOG) en een gereduceerd elektroretinogram (ERG)."},"pt":{"name":"Bestrofinopatia autossómica recessiva","synonyms":["Retinopatia, tipo Burgess-Black"],"definition":"A retinopatia tipo Burgess-Black é caracterizada pela perda da visão central, ausência de aumento de luz no eletro-oculograma e anomalias na eletroretinografia."},"pl":{"name":"Autosomalna recesywna bestrofinopatia","synonyms":["Retinopatia, typ Burgessa i Blacka"]},"cs":{"name":"Autozomálně recesivní bestrofinopatie","synonyms":["Retinopatie, Burgessův-Blackův typ","Retinopatie, Burgess-Blackův typ"]},"uk":{"name":"Аутосомно-рецесивна бестрофінопатія","synonyms":["Ретинопатія, тип Берджеса-Блека"],"definition":"A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)."},"zh":{"name":"常染色体隐性遗传卵黄样营养不良","synonyms":["视网膜病Burgess-Black型"],"definition":"一种罕见的视网膜营养性萎缩，其特征是出生至20岁中心视力丧失，无眼电图（EOG）光升高，且视网膜电图（ERG）降低。"},"tr":{"name":"Otozomal resesif bestrofinopati","synonyms":["Retinopati, Burgess-Black tipi"]}},"xrefs":[{"source":"OMIM","code":"611809","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"760377585"},{"source":"MONDO","code":"0012733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888198","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10301","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]},{"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":"18179881[PMID]","hgnc":"12703","ensembl":"ENSG00000167995","omim":"607854","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"21825197[PMID]_24337562[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}