{"orpha":209932,"name":"Cone dystrophy with supernormal rod response","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cone dystrophy with supernormal rod ERG","Cone dystrophy with supernormal rod electroretinogram","Cone dystrophy with supernormal scotopic electroretinogram"],"definition":"Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209932/","orphanet_url":"https://www.orpha.net/en/disease/detail/209932","names":{"fr":{"name":"Dystrophie des cônes avec réponse scotopique supranormale","synonyms":["Dystrophie des cônes avec réponse scotopique supranormale à l'ERG","Dystrophie des cônes avec réponse scotopique supranormale à l'électrorétinogramme","Dystrophie des cônes avec réponse supranormale des bâtonnets à l'électrorétinogramme"],"definition":"Rétinopathie héréditaire, se manifestant au cours de la première ou de la deuxième décennie de la vie, caractérisée par une faible acuité visuelle (due à un scotome central), une photophobie, une dyschromatopsie sévère et, dans certains cas, un nystagmus. La cécité nocturne se développe généralement plus tard au cours de l'évolution de la maladie, mais elle peut aussi être apparente dès l'enfance. L'une des caractéristiques de la dystrophie des cônes avec réponse scotopique supranormale est une réponse ERG flicker réduite ou retardée, qui contraste avec la réponse supranormale à l'onde&nbsp;b aux niveaux de stimulation les plus élevés."},"de":{"name":"Zapfendystrophie mit supernormalen Stäbchen-B-Wellen","synonyms":["Zapfendystrophie mit supernormalem Ganzfeld-Elektroretinogramm","Zapfendystrophie mit supernormalem Stäbchen-ERG","Zapfendystrophie mit supernormalem Stäbchen-Elektroretinogramm","Zapfendystrophie mit supernormaler Stäbchenantwort"],"definition":"Die Zapfendystrophie mit supernormaler Stäbchenantwort (CDSRR) ist eine erbliche Retinopathie, mit Beginn in der ersten oder zweiten Lebensdekade, gekennzeichnet durch eine schlechte Sehschärfe (aufgrund des zentralen Skotoms), Photophobie, schwerer Dyschromatopsie und gelegentlich Nystagmus. Nachtblindheit entwickelt sich gewöhnlich im Verlauf der Erkrankung, kann aber auch bereits im Kindesalter auftreten. Ein typisches Merkmal von CDSRR ist die verringerte und verzögert verlaufende Dunkelapation als Reaktion auf schwache Blitze im Elektroretinogramm, bei einer übernormalen B-Wellen-Antwort bei den höchsten Stimulationsniveaus."},"es":{"name":"Distrofia de conos con respuesta supranormal de bastones","synonyms":["Distrofia de conos con respuesta al electrorretinograma escotópico supranormal","Distrofia de conos con respuesta supranormal de los bastones al ERG","Distrofia de conos con respuesta supranormal de los bastones al electrorretinograma"],"definition":"Es una retinopatía hereditaria de inicio en la primera o segunda décadas de vida y caracterizada por una escasa agudeza visual (debido al escotoma central), fotofobia, discromatopsia grave y, ocasionalmente, nistagmo. Por lo general, la ceguera nocturna se desarrolla más tarde en el curso de la enfermedad; sin embargo, puede ser evidente desde la infancia. Una característica distintiva de esta retinopatía es la disminución y el retraso en la respuesta de adaptación a la oscuridad tras destellos tenues en los registros electrorretinográficos, que contrasta con la elevada respuesta de onda b en los niveles más altos de estimulación."},"it":{"name":"Distrofia dei coni con risposta sopranormale dei bastoncelli","synonyms":["Distrofia dei coni con risposta sopranormale all'elettroretinogramma scotopico","Distrofia dei coni con risposta sopranormale dei bastoncelli all'elettroretinogramma"],"definition":"La distrofia dei coni con risposta superiore alla norma dei bastoncelli (CDSRR) è una retinopatia ereditaria, ad esordio nella prima o nella seconda decade di vita, caratterizzata da scarsa acuità visiva (dovuta allo scotoma centrale), fotofobia, discromatopsia grave e talvolta nistagmo. La cecità notturna di solito si manifesta in una fase successiva della malattia, ma può evidenziarsi durante l'infanzia. Un segno tipico della CDSRR è la diminuzione e il ritardo di adattamento al buio in risposta a deboli lampi di luce, come mostrato dall'elettroretinogramma, che contrasta con la risposta superiore alla norma delle onde-b a livelli più elevati di stimolazione."},"nl":{"name":"Kegeldystrofie met supernormale staafrespons","synonyms":["Kegeldystrofie met supernormaal scotopisch elektroretinogram","Kegeldystrofie met supernormaal staaf-elektroretinogram","Kegeldystrofie met supernormale staaf-ERG"],"definition":"Kegeldystrofie met supernormale staafrespons (CDSRR) is een erfelijke retinopathie die aanvangt in het eerste of tweede levensdecennium, en die gekarakteriseerd wordt door verminderde visus (ten gevolge van centraal scotoom), fotofobie, ernstige dyschromatopsie, en soms ook nystagmus. Nachtblindheid ontwikkelt in een latere fase van de ziekte, maar het kan ook reeds merkbaar zijn vanaf de kindertijd. Een typisch kenmerk van CDSRR is de verminderde en vertraagde donkeradaptatie als reactie op gedempte lichtflitsen bij elektroretinografie, die in contrast staat met de supernormale b-golfrespons bij de hoogste stimulatieniveaus."},"pt":{"name":"Distrofia dos cones com resposta supernormal dos bastonetes"},"pl":{"name":"Dystrofia stożka z wzmocnioną odpowiedzią pręcików","synonyms":["Dystrofia stożka z ponadnormalnym ERG pręcików"]},"cs":{"name":"Čípková dystrofie se supernormální tyčinkovou odpovědí","synonyms":["Čípková dystrofie se supernormálním tyčinkovým ERG","Čípková dystrofie se supernormálním tyčinkovým elektroretinogramem","Čípková dystrofie se supernormálním skotopickým elektroretinogramem"]},"uk":{"name":"Дистрофія колбочок з супернормальною реакцією стрижнів","synonyms":["Дистрофія колбочок з супернормальною паличковою електроретинограмою","Дистрофія конуса з супернормальною стрижневою ЕРГ","Дистрофія колбочок з супернормальною скотопічною електроретинограмою"],"definition":"Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation."},"zh":{"name":"椎体营养不良伴超常视杆反应","synonyms":["椎体营养不良伴超常暗视视网膜电图"],"definition":"视锥细胞营养不良伴超常视杆细胞反应（CDSRR）是一种遗传性视网膜病，0-20岁起病，其主要临床表现为视力低下（中心盲点所致）、畏光、重度色盲，偶尔伴有眼球震颤，夜盲症一般出现在病程晚期，但也可以出现在儿童期。CDSRR的一个特征为视网膜电图记录中对弱光的暗适应减弱和延迟，与最高刺激强度下的超高波幅的b波形成鲜明对比。"},"tr":{"name":"Olağanüstü rod cevabı ile koni distrofisi","synonyms":["Süper normal çubuk ERG ile seyreden koni distrofisi","Süper normal çubuk elektroretinogram ile seyreden koni distrofisi","Süper normal skotopik elektroretinogram ile seyreden koni distrofisi"]}},"xrefs":[{"source":"OMIM","code":"610356","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"545671557"},{"source":"MONDO","code":"0012475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835897","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10649","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"KCNV2","name":"potassium voltage-gated channel modifier subfamily V member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16909397[PMID]_18235024[PMID]_18400204[PMID]","hgnc":"19698","ensembl":"ENSG00000168263","omim":"607604","loci":["9p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"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}