{"orpha":319640,"name":"Retinal macular dystrophy type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant bull's-eye macular dystrophy","MCDR2","PROM1-related retinal macular dystrophy"],"definition":"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319640/","orphanet_url":"https://www.orpha.net/en/disease/detail/319640","names":{"fr":{"name":"Dystrophie maculaire rétinienne type 2","synonyms":["Dystrophie maculaire rétinienne associée à PROM1","MCDR2"],"definition":"Dystrophie maculaire génétique rare caractérisée par une maculopathie en oeil de boeuf lentement progressive associée, dans la plupart des cas, à une légère baisse de l'acuité visuelle et à un scotome central. En général, seule la rétine centrale est touchée, mais des cas d'anomalies plus étendues des bâtonnets et des cônes ont été rapportés. Parmi les autres caractéristiques rares, on peut citer une selle turcique vide, des troubles de l'odorat, des infections rénales, une hématurie et des fausses couches récurrentes."},"de":{"name":"Makuladystrophie, retinale, Typ 2","synonyms":["MCDR2","PROM1-assoziierte Makuladystrophie","Autosomal-dominante Bull's-Eye-Makulopathie"]},"es":{"name":"Distrofia macular retiniana tipo 2","synonyms":["Distrofia macular en ojo de buey autosómica dominante","Distrofia macular retiniana asociada al gen PROM1","MCDR2"],"definition":"La distrofia macular retiniana tipo 2 es un trastorno genético de distrofia macular poco frecuente que se caracteriza por una maculopatía en \"ojo de buey\" lentamente progresiva asociada, en la mayoría de los casos, a leve disminución de la agudeza visual y escotomas centrales. En general, sólo está afectada la retina central, aunque se han descrito algunos casos de anomalías más extendidas de conos y bastones. Otras características más excepcionales incluyen, silla turca vacía, afectación del olfato, infecciones renales, hematuria y abortos espontáneos recurrentes."},"it":{"name":"Distrofia maculare retinica tipo 2","synonyms":["Distrofia maculare retinica correlata a PROM1","MCDR2","Distrofia maculare a occhio di toro autosomica dominante"],"definition":"La distrofia maculare retinica tipo 2 è una distrofia maculare genetica rara, caratterizzata da maculopatia ''ad occhio di bue'' a progressione lenta, associata, nella maggior parte dei pazienti, ad una lieve riduzione dell'acuità visiva e ad uno scotoma centrale. Di solito è interessata solo la porzione centrale della retina, ma sono stati documentati alcuni casi con anomalie più generalizzate dei bastoncelli e dei coni. Sono rari la sella turcica vuota, la compromissione dell'olfatto, le infezioni renali, l'ematuria e gli aborti ricorrenti."},"nl":{"name":"Retinale maculadystrofie type 2","synonyms":["Autosomaal dominante 'bull's eye'-maculadystrofie","PROM1-gerelateerde retinale maculadystrofie","MCDR2"],"definition":"Retinale maculaire dystrofie type 2 is een zeldzame, genetische maculaire dystrofie die gekarakteriseerd wordt door traag progressieve ''bull's-eye''-maculopathie, in de meeste gevallen geassocieerd met milde afname van gezichtsscherpte en centrale scotomen. Doorgaans is enkel de centrale retina betrokken, hoewel er ook enkele gevallen met meer wijdverspreide anomalieën van staafjes en kegeltjes werden gerapporteerd. Zeldzame bijkomende kenmerken zijn onder meer een lege sella turcica (Turkse zadel), reukstoornissen, nierinfecties, hematurie en recurrente miskramen."},"pt":{"name":"Distrofia macular da retina, tipo 2"},"pl":{"name":"Dystrofia plamki siatkówki typu 2","synonyms":["MCDR2"]},"cs":{"name":"Retinální makulární dystrofie typ 2","synonyms":["MCDR2"]},"uk":{"name":"Макулодистрофія сітківки, тип 2","synonyms":["MCDR2"],"definition":"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages."},"zh":{"name":"视网膜黄斑营养不良2型","synonyms":["MCDR2"],"definition":"视网膜黄斑营养不良2型是一种罕见的遗传性黄斑营养不良疾病，其特征是缓慢进展的靶心样黄斑病变，在大多数情况下，伴有视力轻度下降和中央暗点。通常，只涉及中央视网膜，然而一些更广泛的视杆细胞和视锥细胞异常的病例已有报道。其他罕见特征包括空蝶鞍、嗅觉受损、肾脏感染、血尿和反复流产。"},"tr":{"name":"Retina maküler distrofi tip 2","synonyms":["MCDR2"]}},"xrefs":[{"source":"OMIM","code":"608051","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011957","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562746","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749334","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"PROM1","name":"prominin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20393116[PMID]","hgnc":"9454","ensembl":"ENSG00000007062","omim":"604365","loci":["4p15.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"20393116[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20393116[PMID]"}],"phenotypes":null}