{"orpha":215,"name":"Congenital stationary night blindness","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Congenital essential nyctalopia"],"definition":"Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (&#8805;-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-215/","orphanet_url":"https://www.orpha.net/en/disease/detail/215","names":{"fr":{"name":"Cécité nocturne stationnaire congénitale","synonyms":["Héméralopie congénitale essentielle"],"definition":"Un groupe de maladies rétiniennes non progressives, caractérisées par un trouble de la vision à la pénombre ou à l'obscurité, ou un délai d'adaptation à l'obscurité, associé à une faible acuité visuelle (de 20/30 à 20/200), une myopie [allant d'une myopie basse (-0 ,25 dioptries [D] à -4 ,75 D) à une forte myopie (&#8805; -10,00 D)], un nystagmus, un strabisme, une vision normale des couleurs et des anomalies du fond de l'oeil."},"de":{"name":"Nachtblindheit, kongenitale stationäre","synonyms":["Nyktalopie, essentielle kongenitale"],"definition":"Kongenitale stationäre Nachtblindheit (CSNB) umfasst eine nicht progressive Gruppe von Netzhauterkrankungen, die durch Sehstörungen oder verzögerter Dunkelanpassung bei Dunkelheit oder gedämmten Licht, schlechte Sehschärfe (von 20/30 bis 20/200), Kurzsichtigkeit (von niedrig (-0,25 Dioptrien[D] bis -4,75 D) bis hoch (&ge;-10,00 D)), Nystagmus, Strabismus, normales Farbsehen und Fundusanomalien gekennzeichnet sind."},"es":{"name":"Ceguera nocturna estacionaria congénita","synonyms":["Ceguera nocturna estable congénita","Nictalopia esencial congénita"],"definition":"La ceguera nocturna estacionaria congénita (CSNB, por sus siglas en inglés) se refiere a un grupo de trastornos de la retina no progresivos, que se caracterizan por una alteración de la visión nocturna o con luz tenue o una adaptación retardada a la oscuridad, baja agudeza visual (que varía entre 20/30 y 20/200), miopía (que varía desde baja -0.25 dioptrías [D] a -4.75 D) a alta (&#8805; -10.00 D)), nistagmo, estrabismo, visión normal del color y anomalías del fondo de ojo."},"it":{"name":"Cecità notturna stazionaria congenita","synonyms":["Nictalopia essenziale congenita"],"definition":"La cecità notturna stazionaria congenita (CSNB) comprende un gruppo di malattie non progressive della retina, caratterizzate da disturbi della visione notturna o in condizioni di penombra o da un ritardo nell'adattamento al buio, scarsa acuità visiva (da 20/30 a 20/200), miopia bassa (da -0,25 diottrie [D] a -4,75 D) o elevata (&#8805;- 10,00 D), nistagmo, strabismo, normale visione cromatica e anomalie del fondo oculare."},"nl":{"name":"Congenitale stationaire nachtblindheid","synonyms":["Congenitale essentiële nyctalopie"],"definition":"Congenitale stationaire nachtblindheid (CSNB) verwijst naar een niet-progressieve groep retinale stoornissen die gekarakteriseerd worden door een verstoord zicht bij nacht of schemering of een vertraagde donkeradaptatie, ondermaatse gezichtsscherpte (gaande van 20/30 tot 20/200), myopie (gaande van laag (-0,25 dioptrie (D) tot -4,75 D) tot hoog (>=-10,00 D)), nystagmus, strabisme, normaal kleurenzicht, en afwijkingen van de fundus."},"pt":{"name":"Cegueria noturna estacionária congénita","synonyms":["Hemeralopia congénita essencial"]},"pl":{"name":"Wrodzona stacjonarna ślepota nocna","synonyms":["Wrodzona ślepota nocna"]},"cs":{"name":"Vrozená stacionární noční slepota","synonyms":["Vrozená nyktalopie"]},"uk":{"name":"Вроджена нічна сліпота","synonyms":["Вроджена есенціальна нікталопія"],"definition":"Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (&#8805;-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities."},"zh":{"name":"先天性静止性夜盲症","synonyms":["先天性原发夜盲症"]},"tr":{"name":"Doğumsal sabit gece körlüğü","synonyms":["Doğumsal esansiyel niktalopi"]}},"xrefs":[{"source":"ICD-10","code":"H53.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9D45","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"587494652"},{"source":"MONDO","code":"0016293","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16293","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536122","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339535","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3995","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":[{"orpha":714096,"name":"Congenital stationary night blindness, Riggs type","type":"Disease"},{"orpha":714090,"name":"Congenital stationary night blindness, Schubert-Bornschein type","type":"Disease"},{"orpha":227796,"name":"Fundus albipunctatus","type":"Disease"},{"orpha":75382,"name":"Oguchi disease","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-20","source":"20301423[PMID]_30578486[PMID]_25307992[PMID]","terms":[{"hpo":"HP:0030469","label":"Abnormal dark-adapted electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030639","label":"Congenital stationary night blindness with abnormal fundus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030638","label":"Congenital stationary night blindness with normal fundus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031705","label":"Compensatory head posture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007984","label":"Electronegative electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030483","label":"Reduced amplitude of dark-adapted bright flash electroretinogram a-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030329","label":"Retinal thinning","frequency":"Very rare (<4-1%)","criteria":null}]}}