{"orpha":99003,"name":"Multifocal pattern dystrophy simulating fundus flavimaculatus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Multifocal pattern dystrophy simulating Stargardt disease"],"definition":"A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99003/","orphanet_url":"https://www.orpha.net/en/disease/detail/99003","names":{"fr":{"name":"Dystrophie tachetée simulant le fundus flavimaculatus","synonyms":["Dystrophie tachetée simulant la maladie Stargardt"],"definition":"Dystrophie rare de l'épithélium pigmentaire rétinien caractérisée par de multiples taches jaunâtres irrégulières, reliées entre elles ou dispersées autour de la macula, dont l'aspect ressemble à celui observé dans la maladie de Stargardt. Elles sont généralement asymptomatiques jusqu'à l'âge adulte qui coïncide avec une perte de vision lentement progressive ne devenant souvent apparente qu'à un âge avancé."},"de":{"name":"Musterdystrophie, multifokale (vorgetäuschter Fundus flavimaculatus)","synonyms":["Musterdystrophie, multifokale (vorgetäuschte Stargardt-Krankheit)"],"definition":"Die einen Fundus flavimaculatus simulierende multifokale Musterdystrophie ist eine gemusterte Dystrophie des retinalen Pigmentepithels (s. dort), die durch mehrere gelbliche, unregelmäßige Flecken, die um die Makula verstreut oder miteinander verbunden sind, charakterisiert ist und simuliert, was bei einem Morbus Stargardt beobachtet werden kann (s. dort). Normalerweise ist die Erkrankung bis zum Erwachenenalter asymptomatisch und zeigt sich dann mit einem langsam fortschreitenden Sehverlust. Dieser tritt auch oft erst im fortgeschrittenen Alter auf."},"es":{"name":"Distrofia en patrón multifocal simulando el fundus flavimaculatus","synonyms":["Distrofia en patrón multifocal que simula la enfermedad de Stargardt","Distrofia en patrón multifocal simulando la enfermedad de Stargardt"],"definition":"Es una distrofia en patrón del epitelio pigmentario retiniano caracterizada por múltiples motas irregulares de color amarillento, dispersas o agrupadas alrededor de la mácula, simulando la enfermedad de Stargardt. Por lo general, es asintomática hasta una edad avanzada, en la que los pacientes experimentan una pérdida lenta y progresiva de la visión."},"it":{"name":"Distrofia multifocale a pattern simulante il fondo flavimaculato","synonyms":["Distrofia multifocale a pattern simulante la malattia di Stargadt"],"definition":"La distrofia multifocale simulante il fondo flavimaculato è una distrofia caratteristica dell'epitelio pigmentato della retina (si veda questo termine). E' caratterizzata da chiazze multiple irregolari di colore giallognolo sparse, oppure interconnesse attorno alla macula, che simulano il quadro della malattia di Stargardt (si veda questo termine), che di solito sono asintomatiche fino all'età adulta, quando i pazienti sviluppano la perdita progressiva della vista ad evoluzione lenta, spesso non evidente fino alla tarda età."},"nl":{"name":"Multifocale patroondystrofie lijkend op fundus flavimaculatus","synonyms":["Multifocale patroondystrofie lijkend op ziekte van Stargardt"],"definition":"Een zeldzame patroondystrofie van retinaal pigmentepitheel, gekarakteriseerd door multipele, gelige, onregelmatige, verspreide of met elkaar verbonden vlekken rond de macula, gelijkaardig aan wat wordt waargenomen bij ziekte van Stargardt, en doorgaans asymptomatisch tot de volwassenheid, wanneer patiënten zich presenteren met een traag progressief functieverlies van het zicht dat vaak pas merkbaar wordt op latere leeftijd."},"pt":{"name":"Distrofia de padrão multifocal simulando fundus flavimaculatus"},"pl":{"name":"Wieloogniskowa dystrofia wzorzasta symulująca dno żółtoplamiste","synonyms":["Multifocal pattern dystrophy simulating Stargardt disease"]},"cs":{"name":"Mřížkovaná dystrofie makuly napodobující fundus flavimaculatus","synonyms":["Mřížkovaná dystrofie makuly napodobující Stargardtovu nemoc"]},"uk":{"name":"Мультифокальна дистрофія очного дна, що симулює fundus flavimaculatus","synonyms":["Мультифокальна патернальна дистрофія, що імітує хворобу Штаргардта"],"definition":"A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age."},"zh":{"name":"多灶性图形样眼底黄斑样营养不良","synonyms":["类Stargardt病的多灶型营养不良"],"definition":"该病是一种罕见的视网膜色素上皮营养不良症，特征是黄斑周围散布或相接的黄色不规则斑点，类似于Stargardt 病的症状，通常在成年前无症状，直到成年才出现缓慢进行性的视力丧失，症状通常只在老年时期显现。"},"tr":{"name":"Fundus flavimakulatusu taklit eden multifokal patern distrofisi","synonyms":["Stargardt hastalığını taklit eden multifokal desen distrofi"]}},"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":"1819044742"},{"source":"MONDO","code":"0020382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509881","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":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17504850[PMID]","hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}