{"orpha":75378,"name":"Oligocone trichromacy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Oligocone syndrome"],"definition":"A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75378/","orphanet_url":"https://www.orpha.net/en/disease/detail/75378","names":{"fr":{"name":"Oligocône trichromatie","synonyms":["Syndrome oligocône"],"definition":"Forme rare et non progressive du syndrome de dysfonctionnement des cônes photorécepteurs, caractérisée par une acuité visuelle réduite, un fond d'oeil normal, une absence ou une diminution des réponses des cônes à l'électrorétinographie. Contrairement à toutes les autres formes de dysfonctionnement des cônes, la vision des couleurs est normale."},"de":{"name":"Oligocone-Trichromasie","synonyms":["Zäpfchenmangel-Syndrom"],"definition":"Eine seltene, nicht-progressive Form des Syndroms der Zapfenphotorezeptor-Dysfunktion, die durch reduzierte Sehschärfe, normales Fundusbild und fehlende oder reduzierte Zapfenantworten in der Elektroretinographie gekennzeichnet ist. Im Gegensatz zu allen anderen Formen der Zapfenfunktionsstörung ist das Farbsehen normal."},"es":{"name":"Tricromacia oligocónica","synonyms":["Síndrome de oligoconos"],"definition":"Es una forma poco frecuente y no progresiva del síndrome de disfunción de los conos caracterizada por una reducción de la agudeza visual, una apariencia normal del fondo de ojo y respuestas de conos ausentes o reducidas en el electrorretinograma (ERG). En contraste con todas las otras formas de disfunción de conos, la visión de color es normal."},"it":{"name":"Tricromazia oligoconica","synonyms":["Sindrome oligoconica"],"definition":"È una forma rara non progressiva di disfunzione dei fotorecettori dei coni, caratterizzata da una riduzione dell'acuità visiva, in presenza di un fondo oculare apparentemente normale e in assenza o in presenza ridotta delle risposte dei coni all'elettroretinogramma. A differenza di tutte le altre forme di disfunzione dei coni, la visione dei colori è normale."},"nl":{"name":"Oligocone trichromasie","synonyms":["Oligocoon syndroom"],"definition":"Een zeldzame, niet-progressieve vorm van disfunctiesyndroom van fotoreceptoren van kegeltjes, gekarakteriseerd door verminderde gezichtsscherpte, normaal uiterlijk van de fundus en afwezige of verminderde reacties van kegeltjes bij elektroretinografie. In tegenstelling tot alle andere vormen van disfunctie van kegeltjes is het kleurenzicht normaal."},"pt":{"name":"Tricomacia oligocone","synonyms":["Síndrome oligocone"]},"pl":{"name":"Trichromatyzm","synonyms":["Oligocone syndrome"]},"cs":{"name":"Oligokonální trichromázie","synonyms":["Oligokonální syndrom"]},"uk":{"name":"Триколірність олігоконуса","synonyms":["Синдром олігоконуса"],"definition":"A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal."},"zh":{"name":"寡锥三色视","synonyms":["单一视椎细胞综合征"]},"tr":{"name":"Oligokon trikromasi","synonyms":["Oligocone sendromu"]}},"xrefs":[{"source":"ICD-10","code":"H35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"645985320"},{"source":"MONDO","code":"0019151","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302876","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"14736794[PMID]_17090894[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null}]}}