{"orpha":99000,"name":"Adult-onset foveomacular vitelliform dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AOFMD","AVMD","Adult-onset foveomacular dystrophy","Adult-onset foveomacular dystrophy with choroidal neovascularization","Adult-onset vitelliform macular dystrophy","Gass disease","Pseudo-Best disease","Pseudo-vitelliform macular dystrophy"],"definition":"A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99000/","orphanet_url":"https://www.orpha.net/en/disease/detail/99000","names":{"fr":{"name":"Dystrophie fovéo-maculaire vitelliforme de l'adulte","synonyms":["AOFMD","AVMD","Dystrophie maculaire pseudo-vitelliforme","Dystrophie maculaire type pseudo-Best","Dystrophie maculaire vitelliforme de l'adulte","Dégénérescence fovéo-maculaire vitelliforme de l'adulte","Dégénérescence maculaire pseudo-vitelliforme","Dégénérescence maculaire type pseudo-Best","Dégénérescence maculaire vitelliforme de l'adulte","Maladie de Gass","Pseudo-maladie de Best"],"definition":"La dystrophie fovéo-maculaire vitelliforme de l'adulte (AOFVD) est une dystrophie maculaire génétique caractérisée par une vision trouble, une métamorphopsie et un léger trouble visuel secondaire à une lésion en « jaune d'oeuf », légèrement élevée, situé dans la région fovéale ou parafovéale."},"de":{"name":"Adulte foveomakuläre vitelliforme Dystrophie","synonyms":["AOFMD","AVMD","Adulte foveomakuläre Dystrophie mit choroidaler Neovaskularisationen","Foveomakuläre Dystrophie mit Beginn im Erwachsenenalter","Gass-Krankheit","Makuladegeneration, pseudo-vitelliforme","Makuladystrophie, adulte vitelliforme","Pseudo-Best-Krankheit"],"definition":"Die im Erwachsenenalter beginnende Foveo-makuläre vitelliforme Dystrophie (AOFVD) ist eine genetisch bedingte Makuladystrophie. Charakteristisch sind verschwommener Visus, Metamorphopsie und milde Sehstörung im Gefolge von leicht erhöhten gelben, dotterartigen Läsionen in der Fovea und der parafovealen Region."},"es":{"name":"Distrofia foveomacular viteliforme de inicio en el adulto","synonyms":["Distrofia macular viteliforme de inicio en el adulto","Enfermedad de Gass","Pseudodistrofia macular viteliforme","Pseudoenfermedad de Best","AOFMD","AVMD","Disfrofia foveomacular de inicio en el adulto","Disfrofia foveomacular de inicio en el adulto con neovascularización coroidea"],"definition":"Es una distrofia macular genética poco frecuente caracterizada por visión borrosa, metamorfopsia y deficiencia visual leve a consecuencia de una lesión en forma de yema de huevo amarilla y ligeramente elevada localizada en la región foveal o parafoveal."},"it":{"name":"Distrofia vitelliforme foveomaculare a esordio adulto","synonyms":["AOFMD","AVMD","Distrofia foveomaculare a esordio adulto","Distrofia foveomaculare a esordio adulto con neovascolarizzazione coroidea","Distrofia maculare pseudo-vitelliforme","Distrofia maculare vitelliforme a esordio adulto","Malattia di Gass","Malattia pseudo-Best"],"definition":"La distrofia vitelliforme foveomaculare ad esordio nell'età adulta (AOFVD) è una distrofia maculare genetica, caratterizzata da annebbiamento della vista, metamorfopsia, e lieve deficit visivo secondario ad una lesione giallognola ''a tuorlo d'uovo'' leggermente rialzata, localizzata nelle regioni foveale o parafoveale."},"nl":{"name":"Foveomaculaire vitelliforme dystrofie met aanvang in de volwassenheid","synonyms":["AOFMD","AVMD","Foveomaculaire dystrofie met aanvang op volwassen leeftijd","Foveomaculaire dystrofie met choroïdale neovascularisatie met aanvang op volwassen leeftijd","Pseudo-Best-ziekte","Pseudovitelliforme maculadystrofie","Vitelliforme maculadystrofie met aanvang op volwassen leeftijd","Ziekte van Gass"],"definition":"Een zeldzame, genetische maculadystrofie, gekarakteriseerd door troebel zicht, metamorfopsie en mild verlies van gezichtsvermogen secundair aan een licht verhoogd, geel, eigeel-achtig letsel gesitueerd in de foveale of parafoveale regio."},"pt":{"name":"Distrofia foveomacular viteliforme de início no adulto"},"pl":{"name":"Żółtkowta dystrofia dołkowo-plamkowa o początku w wieku dorosłym","synonyms":["AOFMD","AVMD","Choroba Gassa","Dystrofia dołkowo-plamkowa o początku w wieku dorosłym","Dystrofia dołkowo-plamkowa o poczatku w wieku dorosłym z neowaskularyzacją naczyniówki","Dystrofia żółtkowta plamki początku w wieku dorosłym","Pseudo-żółtkowta dystrofia plamki","Rzekoma choroba Besta"],"definition":"Dystrofia żółtkowata dołkowo-plamkowa dorosłych (Adult-onset foveomacular vitelliform dystrophy -AOFVD) to genetyczna dystrofia plamki charakteryzująca się niewyraźnym widzeniem, metamorfopsją i łagodnym upośledzeniem wzroku, wtórnym do ubytku podobnego do żółtka jaja kurzego o lokalizacji dołkowej lub pozadołkowej."},"cs":{"name":"Foveomakulární viteliformní dystrofie s nástupem v dospělosti","synonyms":["AOFMD","AVMD","Gassova choroba","Pseudo-Bestova choroba","Pseudoviteliformní makulární dystrofie","Foveomakulární dystrofie s manifestací v dospělosti","Foveomakulární dystrofie s choroidální neovaskularizací s manifestací v dospělosti","Viteliformní makulární dystrofie s manifestací v dospělosti"]},"uk":{"name":"Фовеомакулярна вітелліформна дистрофія, що починається у дорослих","synonyms":["Фовеомакулярна дистрофія у дорослих","Фовеомакулярна дистрофія у дорослих з неоваскуляризацією хоріоїдальної оболонки","Вітелліформна макулодистрофія, що починається у дорослих","AOFMD","AVMD","Хвороба Гасса","Хвороба псевдо-Беста","Псевдовітелліформна макулодистрофія"],"definition":"A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region."},"zh":{"name":"成人起病型中央凹黄斑卵黄样营养不良","synonyms":["成人型黄斑中心凹营养不良伴脉络膜新生血管"],"definition":"该病是一种罕见的遗传性黄斑营养不良症，其特征是视力模糊、视物变形和轻度视力损害，继发于黄斑中心凹或黄斑旁区域略微隆起的黄色蛋黄样病变。"},"tr":{"name":"Erişkin başlangıçlı foveomaküler vitelliform distrofi","synonyms":["AVMD","AOFMD","Gass hastalığı","Psedö-best hastalığı","Erişkin başlangıçlı foveomaküler distrofi","Psedö-vitelliform maküler distrofi","Erişkin başlangıçlı vitelliform maküler distrofi","Koroidal neovaskülarizasyon ile seyreden başlangıçlı foveomaküler distrofi"]}},"xrefs":[{"source":"OMIM","code":"153840","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608161","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616151","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616152","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"558806410"},{"source":"MONDO","code":"0011979","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842914","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10909","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":63454,"name":"Pattern dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"BEST1","name":"bestrophin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10854112[PMID]","hgnc":"12703","ensembl":"ENSG00000167995","omim":"607854","loci":["11q12.3"]},{"symbol":"IMPG1","name":"interphotoreceptor matrix proteoglycan 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23993198[PMID]","hgnc":"6055","ensembl":"ENSG00000112706","omim":"602870","loci":["6q14.1"]},{"symbol":"IMPG2","name":"interphotoreceptor matrix proteoglycan 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25085631[PMID]","hgnc":"18362","ensembl":"ENSG00000081148","omim":"607056","loci":["3q12.3"]},{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9338584[PMID]_10854112[PMID]","hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007677","label":"Vitelliform maculopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001139","label":"Choroideremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007899","label":"Retinal nonattachment","frequency":"Occasional (29-5%)","criteria":null}]}}