{"orpha":227796,"name":"Fundus albipunctatus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-227796/","orphanet_url":"https://www.orpha.net/en/disease/detail/227796","names":{"fr":{"name":"Fundus albipunctatus","definition":"Le fundus albipunctatus est une dystrophie génétique rétinienne rare caractérisée par la présence de nombreuses petites lésions rétiniennes arrondies, de coloration jaunâtre à blanche, disséminées dans la rétine tout en épargnant la fovéa. Les patients présentent pendant l'enfance une cécité nocturne non progressive, avec une augmentation des temps d'adaptation des cônes et des bâtonnets. La macula peut être impliquée ou non, ce qui peut conduire à une diminution de l'acuité visuelle centrale avec l'âge."},"de":{"name":"Fundus albipunctatus","definition":"Fundus albipunctatus ist eine seltene, genetisch bedingte Netzhautdystrophie, die durch das Vorhandensein zahlreicher kleiner, runder, gelblich-weißer Netzhautläsionen gekennzeichnet ist, die über die gesamte Netzhaut verteilt sind, aber die Fovea verschonen. Die Patienten präsentieren sich im Kindesalter mit nicht-progressiver Nachtblindheit mit verlängerten Zapfen- und Stäbchenadaptationszeiten. Die Makula kann betroffen sein oder auch nicht, was zu einer Abnahme der zentralen Sehschärfe mit dem Alter führen kann."},"es":{"name":"Fundus albipunctatus","definition":"El fundus albipunctatus es un trastorno distrófico de la retina, genético y poco frecuente, que se caracteriza por la presencia de numerosas lesiones retinianas pequeñas, redondeadas y de color blanco-amarillento que se distribuyen por toda la retina a excepción de la fóvea. Los afectados se presentan en la infancia con ceguera nocturna no-progresiva con tiempos prolongados de adaptación de conos y bastones. La mácula puede o no estar involucrada, lo que puede resultar en una disminución de la agudeza visual central con la edad."},"it":{"name":"Fondo albipuntato","definition":"Il fondo albipuntato è una distrofia retinica genetica rara, caratterizzata dalla presenza di numerose lesioni retiniche piccole, rotonde, di colore bianco-giallastro distribuite su tutta la retina, senza interessamento della fovea. Durante l'infanzia, i pazienti presentano cecità notturna non progressiva, associata a tempi più lunghi di adattamento dei coni e dei bastoncelli. In alcuni casi è interessata la macula, con riduzione progressiva secondaria dell'acuità visiva centrale."},"nl":{"name":"Fundus albipunctatus","definition":"Fundus albipunctatus is een zeldzame, genetische retinale dystrofie en wordt gekarakteriseerd door de aanwezigheid van talrijke kleine, ronde, gelig-witte retinale laesies, die verspreid zijn over het netvlies maar de fovea sparen. In kindertijd vertonen patiënten niet-progressieve nachtblindheid met een verlengde adaptatietijd van de kegeltjes en staafjes. De macula kan al dan niet betrokken zijn, en dit kan leiden tot een vermindering van de centrale visus met de leeftijd."},"pt":{"name":"Fundus albipunctatus"},"pl":{"name":"Dno białoplamiste"},"cs":{"name":"Fundus albipunctatus"},"uk":{"name":"Біле очне дно (Fundus albipunctatus)","definition":"Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age."},"zh":{"name":"白点状眼底","definition":"白点状视网膜变性是一种罕见的遗传性视网膜营养不良症，其特征是视网膜出现许多小的、圆形的、黄白色的病灶，分布于整个视网膜，但不包括中央凹。患者在儿童期出现非进行性夜盲伴视锥视杆细胞应时间延长。黄斑可能受累，也可能不受累，这可能导致中心视力随年龄增长而下降。"},"tr":{"name":"Fundus albipunktatus"}},"xrefs":[{"source":"OMIM","code":"136880","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":"index","validated":true,"icd11_uri":"1981512475"},{"source":"MONDO","code":"0007639","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0311338","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":215,"name":"Congenital stationary night blindness","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]},{"symbol":"RDH5","name":"retinol dehydrogenase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22736946[PMID]_25820994[PMID]","hgnc":"9940","ensembl":"ENSG00000135437","omim":"601617","loci":["12q13.2"]},{"symbol":"RLBP1","name":"retinaldehyde binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21447491[PMID]","hgnc":"10024","ensembl":"ENSG00000140522","omim":"180090","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}