{"orpha":99004,"name":"Fundus pulverulentus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99004/","orphanet_url":"https://www.orpha.net/en/disease/detail/99004","names":{"fr":{"name":"Fundus pulverulentus","definition":"Forme rare de pattern dystrophie de l'épithélium pigmentaire rétinien caractérisée par un aspect granuleux de la macula, des marbrures grossières et punctiformes de l'épithélium pigmentaire rétinien dans la région maculaire. L'association avec une néovascularisation choroïdienne a été rapportée."},"de":{"name":"Fundus pulverulentus"},"es":{"name":"Fundus pulverulentus","definition":"El fundus pulverulentus es una forma poco frecuente de distrofia en patrón del epitelio pigmentario retiniano que se caracteriza por mácula de aspecto granular con moteado grueso y puntiforme del epitelio pigmentario retiniano dentro de la región macular. Se ha descrito asociación con neovascularización coroidea."},"it":{"name":"Fundus pulverulento","definition":"Il fundus pulverulento è una forma rara di distrofia dell'epitelio pigmentato della retina, caratterizzata da un aspetto granulare della macula, con screziature puntiformi grossolane dell'epitelio pigmentato della retina nella regione maculare. Può associarsi alla neovascolarizzazione della coroide."},"nl":{"name":"Fundus pulverulentus","definition":"Fundus pulverulentus is een zeldzame vorm van patroonvormige dystrofie van het retinaal pigmentepitheel, en wordt gekarakteriseerd door een granulair voorkomen in de macula, met grove en puntvormige vlekken op het retinaal pigmentepitheel in het maculaire gebied. Er werd associatie met choroïdale neovascularisatie gerapporteerd."},"pt":{"name":"Fundus pulverulentus"},"pl":{"name":"Dno zamglone"},"cs":{"name":"Fundus pulverulentus"},"uk":{"name":"Fundus pulvululentus","definition":"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported."},"zh":{"name":"粉尘状眼底","definition":"基底视网膜色素上皮营养不良是一种罕见的视网膜色素上皮营养不良，其特征是黄斑内有颗粒状外观，黄斑区视网膜色素上皮有粗糙的斑点状斑点，已有其与脉络膜新生血管的相关报道。"},"tr":{"name":"Fundus pulverulentus"}},"xrefs":[{"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":"871251875"},{"source":"MONDO","code":"0020383","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749286","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}