{"orpha":1872,"name":"Cone rod dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1872/","orphanet_url":"https://www.orpha.net/en/disease/detail/1872","names":{"fr":{"name":"Dystrophie des cônes et des bâtonnets","synonyms":["Dystrophie cone-rod","Dystrophie mixte cônes-bâtonnets","Dystrophie à cônes prédominants"],"definition":"Maladie génétique rétinienne héréditaire isolée rare, caractérisée par une dégénérescence primaire des cônes et par une atteinte secondaire majeure des bâtonnets et un aspect du fond d'oeil variable. Les signes cliniques caractéristiques sont une baisse de l'acuité visuelle, un scotome central, une photophobie et une altération de la vision des couleurs, suivis d'une cécité nocturne et d'une perte du champ visuel périphérique."},"de":{"name":"Zapfen-Stäbchen-Dystrophie","definition":"Eine seltene, genetisch bedingte, isolierte, vererbte Erkrankung der Netzhaut, die durch eine primäre Degeneration der Zapfen mit signifikanter sekundärer Beteiligung der Stäbchen gekennzeichnet ist und mit einem variablen Erscheinungsbild des Fundus einhergeht. Typische Symptome sind verminderte Sehschärfe, Zentralskotom, Photophobie, Veränderung des Farbsehens, gefolgt von Nachtblindheit und Verlust des peripheren Gesichtsfeldes."},"es":{"name":"Distrofia de conos y bastones","definition":"Es un trastorno hereditario de la retina, aislado, genético y poco frecuente, caracterizado por degeneración primaria de conos con afectación secundaria significativa de bastones, con una apariencia variable del fondo de ojo. La presentación típica incluye disminución de la agudeza visual, escotoma central, fotofobia y alteración de la visión de color, seguidos de ceguera nocturna y pérdida del campo visual periférico."},"it":{"name":"Distrofia dei coni e dei bastoncelli","definition":"La distrofia dei coni e dei bastoncelli (CRD) è una malattia ereditaria rara e isolata della retina, di origine genetica, caratterizzata dalla degenerazione primaria dei coni, associata ad un marcato interessamento secondario dei bastoncelli, con aspetto variabile del fondo oculare. I segni clinici caratteristici comprendono la riduzione dell'acuità visiva, lo scotoma centrale, la fotofobia e l'alterazione della visione dei colori, seguiti dalla cecità notturna e dalla perdita della visione periferica."},"nl":{"name":"Kegel-staafdystrofie","definition":"Een zeldzame, genetische, geïsoleerde, erfelijke stoornis van het netvlies gekarakteriseerd door primaire degeneratie van kegeltjes met significante secundaire betrokkenheid van staafjes, met een variabel uiterlijk van de fundus. De typische presentatie omvat verminderde gezichtsscherpte, centraal scotoom, fotofobie, verandering van het kleurenzicht, gevolgd door nachtblindheid en verlies van het perifere gezichtsveld."},"pt":{"name":"Distrofia dos cones e bastonetes"},"pl":{"name":"Dystrofia czopków i pręcików"},"cs":{"name":"Dystrofie čípků a tyčinek"},"uk":{"name":"Дистрофія конусних стрижнів","definition":"A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field."},"zh":{"name":"遗传性视锥视杆细胞营养不良"},"tr":{"name":"Koni çubuk distrofisi"}},"xrefs":[{"source":"OMIM","code":"120970","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300476","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300834","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"303700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"304020","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600624","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600977","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601777","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602093","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603649","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604116","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604393","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605549","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608194","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610283","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610381","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610478","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612657","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612775","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613660","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615163","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615374","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615860","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615973","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616170","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616502","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618555","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619531","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620342","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621558","qualifier":"BTNT","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":"2109196114"},{"source":"MONDO","code":"0015993","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000071700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4085590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10790","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085521","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare 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validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-24","source":"38028590[PMID]_38091967[PMID]_17270046[PMID]","terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030466","label":"Abnormal full-field electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007843","label":"Attenuation of retinal blood vessels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007737","label":"Bone spicule pigmentation of the retina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision 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