{"orpha":75374,"name":"Bradyopsia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PERRS","Prolonged electroretinal response suppression"],"definition":"A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75374/","orphanet_url":"https://www.orpha.net/en/disease/detail/75374","names":{"fr":{"name":"Bradyopsie","synonyms":["Suppression de réponse électrorétinienne prolongée"],"definition":"Maladie génétique rétinienne rare caractérisée par un retard marqué dans l'adaptation visuelle à l'obscurité et à la lumière, des difficultés marquées à suivre les objets en mouvement et une légère photophobie se manifestant dès l'enfance. La baisse de l'acuité visuelle est variable, tandis que la vision des couleurs n'est pas affectée."},"de":{"name":"Bradyopsie","synonyms":["Verzögerte Zapfenadaptation (Prolonged electroretinal response supression (PERRS))"],"definition":"Eine seltene genetisch bedingte Netzhauterkrankung, die sich in der Kindheit durch eine deutlich verzögerte visuelle Anpassung sowohl an dunkle als auch an helle Lichtverhältnisse, ausgeprägte Schwierigkeiten bei der Verfolgung bewegter Objekte und eine leichte Photophobie auszeichnet. Die Sehschärfe ist unterschiedlich stark reduziert, während das Farbensehen nicht beeinträchtigt ist."},"es":{"name":"Bradiopsia","synonyms":["PERRS","Supresión de la respuesta electroretineana prolongada","Supresión prolongada de la respuesta electroretiniana"],"definition":"Es un trastorno de la retina de origen genético y poco frecuente caracterizado por el inicio en la infancia de un notable retraso de la adaptación visual a condiciones tanto de oscuridad como de iluminación, marcadas dificultades para rastrear objetos en movimiento y fotofobia leve. La agudeza visual se reduce de forma variable, mientras que la visión de los colores no se ve afectada."},"it":{"name":"Bradiopsia","synonyms":["Soppressione prolungata della risposta elettroretinica"]},"nl":{"name":"Bradyopsie","synonyms":["Langdurige suppressie van elektroretinale respons","PERRS"],"definition":"Een zeldzame genetische aandoening van retina, gekenmerkt door in de kindertijd optredende aanzienlijke vertraging van visuele aanpassing aan zowel donkere als lichte omstandigheden, ernstige moeilijkheden met het volgen van bewegende objecten, en milde fotofobie. De gezichtsscherpte is variabel gereduceerd, terwijl het kleurenzicht niet aangetast wordt."},"pt":{"name":"Bradiopsia","synonyms":["Supressão da resposta electrorretiniana prolongada (PERRS)"],"definition":"Doença genética rara da retina caracterizada por início na infância de adaptação visual marcadamente comprometida a condições de escuridão e luz, dificuldades acentuadas em rastrear objetos em movimento e fotofobia leve. A acuidade visual é reduzida de forma variável, enquanto a visão de cores não é afetada."},"pl":{"name":"Bradyopsja","synonyms":["PERRS"],"definition":"Rzadka genetyczna choroba siatkówki charakteryzująca się znacznie opóźnioną adaptacją wzrokową zarówno do warunków ciemnych, jak i jasnych, o początku w wieku dziecięcym, znacznymi trudnościami w śledzeniu poruszających się obiektów i łagodnym światłowstrętem. Ostrość wzroku ulega w różnym stopniu pogorszeniu, natomiast widzenie kolorów pozostaje niezmienione."},"cs":{"name":"Bradyopsie","synonyms":["PERRS","Suprese prodloužené elektroretinální odpovědi"]},"uk":{"name":"Брадіопсія","synonyms":["PERRS","Тривале пригнічення електроретинальної відповіді"],"definition":"A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected."},"zh":{"name":"慢视症","synonyms":["视网膜电反应抑制延长"]},"tr":{"name":"Bradyopsi","synonyms":["PERRS","Uzamış elektroretinal yanıtı bastırma"]}},"xrefs":[{"source":"OMIM","code":"608415","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620344","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H53.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9D7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1497247503"},{"source":"MONDO","code":"0012033","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564243","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842073","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12299","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":"RGS9","name":"regulator of G protein signaling 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14702087[PMID]","hgnc":"10004","ensembl":"ENSG00000108370","omim":"604067","loci":["17q24.1"]},{"symbol":"RGS9BP","name":"regulator of G protein signaling 9 binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14702087[PMID]","hgnc":"30304","ensembl":"ENSG00000186326","omim":"607814","loci":["19q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"14702087[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14702087[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}