{"orpha":53540,"name":"Goldmann-Favre syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ESCS","Enhanced S-cone syndrome","Retinoschisis with early nyctalopia"],"definition":"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53540/","orphanet_url":"https://www.orpha.net/en/disease/detail/53540","names":{"fr":{"name":"Syndrome de Goldmann-Favre","synonyms":["ESCS","Syndrome d'augmentation des cônes bleus","Syndrome de rétinoschisis-héméralopie précoce"],"definition":"Le syndrome de Goldmann-Favre (SGF) est une dystrophie vitréo-rétinienne caractérisée par l'apparition précoce d'une héméralopie, d'une diminution bilatérale de l'acuité visuelle et des anomalies caractéristiques au fond d'oeil (dégénéresence pigmentaire progressive, oedème maculaire, rétinoschisis)."},"de":{"name":"Goldmann-Favre-Syndrom","synonyms":["ESCS","Enhanced-S-Cone Syndrom","Retinoschisis mit früher Nyktalopie"],"definition":"Das Goldmann-Favre-Syndrom (GFS) ist eine vitreoretinale Dystrophie, die durch früh einsetzende Nachtblindheit, reduzierte beidseitige Sehschärfe und typische Fundusbefunde (progressive pigmentäre degenerative Veränderungen, Makulaödem, Netzhautriss) gekennzeichnet ist."},"es":{"name":"Síndrome de Goldmann-Favre","synonyms":["ESCS","Retinosquisis con nictalopía temprana","Síndrome del incremento de conos S"],"definition":"El síndrome de Goldmann-Favre (GFS) es una distrofia vitreorretiniana caracterizada por la aparición precoz de ceguera nocturna, disminución de la agudeza visual bilateral, y datos típicos de fondo de ojo (cambios degenerativos progresivos en la pigmentación, edema macular, retinosquisis)."},"it":{"name":"Sindrome di Goldmann-Favre","synonyms":["Retinoschisi con nictalopia precoce","Sindrome da aumento dei coni S"]},"nl":{"name":"Syndroom van Goldmann-Favre","synonyms":["ESCS","Enhanced S-cone-syndroom","Retinoschisis met vroege nyctalopie"],"definition":"Een vitreoretinale dystrofie, gekenmerkt door vroege aanvang van nachtblindheid, bilateraal verminderde gezichtsscherpte, en typische bevindingen van fundus oculi (progressieve degeneratieve pigmentveranderingen, macula-oedeem, retinoschisis)."},"pt":{"name":"Síndrome Goldmann-Favre","synonyms":["ESCS","Retinosquisis com nictalopia precoce","Síndrome de cone S intensificado"]},"pl":{"name":"Zespół Goldmanna i Favre'a","synonyms":["Rozwarstwienie siatkówki z wczesną ślepotą zmierzchową","Zespół wzmożonej aktywności systemu czopków krótkofalowych"]},"cs":{"name":"Goldmannův-Favreův syndrom","synonyms":["Syndrom zesíleného S-čípku","Retinoschíza s časnou nyktalopií","Goldmann-Favreův syndrom"]},"uk":{"name":"Синдром Гольдмана-Фавра","synonyms":["Посилений синдром S-конуса","Ретиношизис при ранній нікталопії"],"definition":"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)."},"zh":{"name":"Goldmann-Favre综合征","synonyms":["视网膜劈裂症伴早发夜盲症"]},"tr":{"name":"Goldmann-Favre sendromu","synonyms":["Gelişmiş S-koni sendromu","Erken niktalopili retinoskizis"]}},"xrefs":[{"source":"OMIM","code":"268100","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":"890235941"},{"source":"MONDO","code":"0100289","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564835","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339541","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10781","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"NR2E3","name":"nuclear receptor subfamily 2 group E member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10655056[PMID]","hgnc":"7974","ensembl":"ENSG00000278570","omim":"604485","loci":["15q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"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}