{"orpha":75381,"name":"Cystoid macular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant cystoid macular edema","DCMD","Familial macular edema"],"definition":"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75381/","orphanet_url":"https://www.orpha.net/en/disease/detail/75381","names":{"fr":{"name":"Dystrophie maculaire cystoïde","synonyms":["Oedème maculaire cystoïde autosomique dominant","Oedème maculaire familial"],"definition":"La dystrophie maculaire cystoïde est un oedème maculaire cystoïde héréditaire autosomique dominant se présentant par une atrophie maculaire, un strabisme et parfois une rétinite pigmentaire péricentrale. Elle est associée à un mauvais pronostic visuel."},"de":{"name":"Makuladystrophie, zystoide","synonyms":["Makuladystrophie, autosomal-dominante zystoide","Makulaödem, familiäres"]},"es":{"name":"Distrofia macular cistoide","synonyms":["DCMD","DMCD","Edema macular familiar","Edema macular quístico autosómico dominante"],"definition":"La distrofia macular cistoide es un edema macular cistoide de herencia autosómica dominante que se manifiesta con atrofia macular, estrabismo y, a veces, retinosis pigmentaria pericentral (consulte este término). Está asociado con un pronóstico visual desfavorable."},"it":{"name":"Distrofia maculare cistoide","synonyms":["DCMD","Edema maculare cistoide autosomico dominante","Edema maculare familiare"],"definition":"La distrofia maculare cistoide è un edema maculare cistoide a trasmissione autosomica dominante, che si presenta con atrofia maculare, strabismo e, talvolta, retinite pigmentosa pericentrale (si veda questo termine). Comporta una prognosi sfavorevole per la vista."},"nl":{"name":"Cystoïde maculadystrofie","synonyms":["Autosomaal dominant cystoïd maculaoedeem","DCMD","Familiaal macula-oedeem"],"definition":"Cystoïde maculadystrofie is een autosomaal dominant overgeërfd cystoïd macula-oedeem dat zich uit met macula-atrofie, strabisme en, soms, pericentrale retinitis pigmentosa (zie deze term). Het is geassocieerd met een ongunstige visuele prognose."},"pt":{"name":"Edema macular quístico autossómico dominante","synonyms":["DCMD","Distrofia macular quística","Edema macular familiar"]},"pl":{"name":"Torbielowaty obrzęk plamki","synonyms":["Autosomalny dominujący torbielowaty obrzęk plamki","DCMD","Rodzinny obrzęk plamki"]},"cs":{"name":"Cystoidní makulární dystrofie","synonyms":["Dominantní cystoidní makulární edém","DCMD","Familiární makulární edém"]},"uk":{"name":"Цистоїдна макулодистрофія","synonyms":["Аутосомно-домінантний цистоїдний макулярний набряк","DCMD","Сімейний макулярний набряк"],"definition":"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis."},"zh":{"name":"囊性黄斑营养不良","synonyms":["常染色体显性遗传性黄斑囊样水肿"]},"tr":{"name":"Kistoid maküler distrofi","synonyms":["DCMD","Ailesel maküla ödemi","Otozomal dominant kistoid maküla ödemi"]}},"xrefs":[{"source":"OMIM","code":"153880","qualifier":"E","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007935","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024440","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058202","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":97.0,"area":"Worldwide","status":"Validated","source":"25267528[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25267528[PMID]"}],"phenotypes":null}