{"orpha":247834,"name":"Occult macular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Miyake disease","OCMD","OMD"],"definition":"Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247834/","orphanet_url":"https://www.orpha.net/en/disease/detail/247834","names":{"fr":{"name":"Dystrophie maculaire occulte","synonyms":["Maladie de Miyake","OCMD","OMD"],"definition":"Une dystrophie génétique rétinienne rare, caractérisée par le déclin bilatéral progressif de l'acuité visuelle, causé par une dysfonction rétinienne limitée à la macula. Le fond d'oeil et l'angiographie à la fluorescéine sont normaux, mais l'électrorétinogramme maculaire focal et l'électrorétinogramme multifocal sont sévèrement atténués."},"de":{"name":"Makuladystrophie, okkulte","synonyms":["Miyake-Krankheit","OCMD","OMD"]},"es":{"name":"Distrofia macular oculta","synonyms":["Enfermedad de Miyake","OCMD","OMD"],"definition":"La distrofia macular oculta es una distrofia retiniana, genética y poco frecuente, caracterizada por una disminución progresiva de la agudeza visual de forma bilateral, debido a una disfunción retiniana limitada a la mácula, asociada a angiografía con fluoresceína y fondo de ojo normales, y a electrorretinogramas multifocal y macular focal notablemente atenuados."},"it":{"name":"Distrofia maculare occulta","synonyms":["Malattia di Mayake","OCMD","OMD"],"definition":"La distrofia maculare occulta è una distrofia retinica genetica rara, caratterizzata da un deterioramento progressivo bilaterale dell'acuità visiva, secondario alla disfunzione della retina, limitato alla macula, associato ad un aspetto normale del fondo dell'occhio e ad esiti normali dell'angiografia con fluorescina; l'elettroretinogramma maculare focale e multifocale sono notevolmente attenuati."},"nl":{"name":"Occulte maculadystrofie","synonyms":["OCMD","OMD","Ziekte van Miyake"],"definition":"Occulte maculadystrofie is een zeldzame, genetische retinale dystrofie die gekarakteriseerd wordt door bilaterale progressieve achteruitgang van de gezichtsscherpte, als gevolg van tot de macula beperkte retinale disfunctie, geassocieerd met normale fundus en fluoresceïne-angiogrammen, en ernstig verzwakte focale maculaire en multifocale elektroretinogrammen."},"pt":{"name":"Distrofia macular oculta","synonyms":["Doença Miyake","OCMD","OMD"]},"pl":{"name":"Utajona dystrofia plamki żółtej","synonyms":["OCMD","OMD"],"definition":"*Ukryta dystrofia plamki jest rzadką, genetycznie uwarunkowaną dystrofią siatkówki, która charakteryzuje się obustronnym, postępującym pogorszeniem ostrości wzroku wskutek zaburzeń czynności siatkówki ograniczonych tylko do plamki żółtej, z prawidłowym obrazem dna oka w badaniu okulistycznym i w angiografii fluoresceinowej oraz istotnie osłabionym sygnałem na ogniskowych elektroretinogramach plamki oraz na elektroretinogramach wieloogniskowych."},"cs":{"name":"Okultní makulární dystrofie","synonyms":["OCMD","OMD"]},"uk":{"name":"Прихована макулодистрофія","synonyms":["OCMD","OMD"],"definition":"Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms."},"zh":{"name":"隐匿性黄斑营养不良","synonyms":["OCMD","OMD"],"definition":"隐匿性黄斑营养不良是一种罕见的遗传性视网膜营养不良疾病，其特征是双眼视力逐渐下降，原因是局限于黄斑的视网膜功能不全，伴有正常的眼底和荧光血管造影，以及严重减弱的局灶性黄斑、多焦视网膜电图。"},"tr":{"name":"Gizli maküler distrofi","synonyms":["OMD","OCMD"]}},"xrefs":[{"source":"OMIM","code":"613587","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B75.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"863463706"},{"source":"MONDO","code":"0013316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150833","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":"RP1L1","name":"RP1 like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20826268[PMID]","hgnc":"15946","ensembl":"ENSG00000183638","omim":"608581","loci":["8p23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}