{"orpha":363989,"name":"Familial benign flecked retina","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363989/","orphanet_url":"https://www.orpha.net/en/disease/detail/363989","names":{"fr":{"name":"Rétine tachetée familiale bénigne","definition":"Dystrophie rétinienne rare caractérisée par des lésions bilatérales diffuses de type mouchetures blanc-jaune s'étendant à la périphérie de la rétine mais épargnant la région fovéale, avec un phénotype clinique asymptomatique et l'absence de déficits électrophysiologiques."},"de":{"name":"Gefleckte Retina, benigne familiäre"},"es":{"name":"Retina moteada familiar benigna","definition":"La retina moteada benigna familiar es una distrofia retiniana poco frecuente caracterizada por lesiones bilaterales difusas blanquecinas-amarillentas similares a pecas, que se extienden hasta la periferia extrema de la retina sin afectar la región foveal, con un fenotipo clínico asintomático y ausencia de deficiencias electrofisiológicas."},"it":{"name":"Retina maculata familiar benigna","definition":"La retina maculata familiare benigna è una distrofia rara della retina, caratterizzata dalla presenza di lesioni diffuse bilaterali simili a chiazze, di colore bianco-giallo, che si estendono fino all'estremità della retina, risparmiando la fovea. I pazienti sono asintomatici e non presentano deficit elettrofisiologici."},"nl":{"name":"Familiale goedaardige gespikkelde retina","definition":"Familiale goedaardige gespikkelde retina is een zeldzame retinale dystrofie, en wordt gekarakteriseerd door diffuse, bilaterale, wit-gele, spikkelachtige letsels die zich uitstrekken tot de periferie van het netvlies maar het gebied van de fovea sparen, met een asymptomatisch klinisch fenotype en afwezigheid van elektrofysiologische stoornissen."},"pt":{"name":"Retina com manchas, forma familiar benigna"},"pl":{"name":"Łagodne rodzinne plamki siatkówki"},"cs":{"name":"Rodinná nezhoubná skvrna sítnice"},"uk":{"name":"Сімейна доброякісна крапчаста сітківка","definition":"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits."},"zh":{"name":"家族性良性斑点视网膜病","definition":"家族性良性斑点状视网膜是一种罕见的视网膜营养不良，其特征是弥漫性双侧白黄斑点状病变延伸至视网膜的远端，但保留了中央凹区，无临床症状且无电生理缺陷。"},"tr":{"name":"Ailesel selim benekli retina"}},"xrefs":[{"source":"OMIM","code":"228980","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":"0009235","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716367,"name":"Rare isolated non-progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PLA2G5","name":"phospholipase A2 group V","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22137173[PMID]","hgnc":"9038","ensembl":"ENSG00000127472","omim":"601192","loci":["1p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"7426586[PMID]_8703867[PMID]_17502520[PMID]_22137173[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"7426586[PMID]_8703867[PMID]_17502520[PMID]_22137173[PMID]_ORPHANET"}],"phenotypes":null}