{"orpha":420556,"name":"Visual snow syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420556/","orphanet_url":"https://www.orpha.net/en/disease/detail/420556","names":{"fr":{"name":"Syndrome de neige visuelle","definition":"Maladie neurologique rare caractérisée par une perception visuelle bilatérale continue et persistante de points scintillants ressemblant à de la neige dans tout le champ visuel, associée à d'autres symptômes visuels (palinopsie, perception exagérée du phénomène entoptique, nyctalopie, photophobie et photopsie) et non visuels (migraine avec ou sans aura, acouphènes et parfois tremblements)."},"de":{"name":"Visual snow-Syndrom","synonyms":["Augenflimmer-Phänomen","Augenrauschen"],"definition":"Das Visual snow-Syndrom ist eine seltene neurologische Erkrankung, die durch ein anhaltendes bilaterales visuelles Erlebnis von flackernden schneeähnlichen Punkten im gesamten Gesichtsfeld in Verbindung mit anderen visuellen (einschließlich Palinopsie, verstärkte entopische Phänomene, Nyktalopie, Photophobie und Photopsie) und nicht-visuellen (Migräne mit oder ohne Aura, Tinnitus und gelegentlich Tremor) Symptomen gekennzeichnet ist."},"es":{"name":"Síndrome de nieve visual","definition":"El síndrome de nieve visual es una enfermedad neurológica poco frecuente, caracterizada por la experiencia visual bilateral, continua y persistente, de puntos similares a copos de nieve centelleantes en todo el campo visual, junto con otros síntomas visuales (que incluyen palinopsia, fenómenos entópticos potenciados, nictalopía, fotofobia y fotopsia) y no visuales (migraña con o sin aura, tinnitus y ocasionalmente temblor)."},"it":{"name":"Sindrome della neve visiva","definition":"La sindrome della neve visiva è una malattia neurologica rara, caratterizzata dalla presenza bilaterale, continua e persistente di puntini tremolanti simili a fiocchi di neve, distribuiti su tutto il campo visivo, associata ad altri sintomi visivi (palinopsia, aumento dei fenomeni entoptici, nictalopia, fotofobia e fotopsia) e non visivi (emicrania con o senza aura, acufeni e, raramente, tremore)."},"nl":{"name":"Visual snow-syndroom","synonyms":["Oogruisfenomeen"],"definition":"Visual snow-syndroom is een zeldzame, neurologische ziekte die gekarakteriseerd wordt door de aanhoudende, continue en bilaterale visuele gewaarwording van flikkerende sneeuw-achtige puntjes over het hele gezichtsveld, in associatie met andere visuele (waaronder palinopsie, versterkte entoptisch fenomeen, nyctalopie, fotofobie en fotopsie) en niet-visuele (migraine met of zonder aura, tinnitus en soms tremor) symptomen."},"pt":{"name":"Síndrome de neve visual"},"pl":{"name":"Zespół śniegu optycznego"},"cs":{"name":"Syndrom sněžného vidění"},"uk":{"name":"Візуальний сніговий синдром","definition":"Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms."},"zh":{"name":"视雪综合征","definition":"视觉雪综合征是一种罕见的神经系统疾病，其特征是持续不断的双侧视觉体验为整个视野中有闪烁着类似雪点的斑点，并伴有其他视觉（包括视觉重复，局部增强现象，夜盲，畏光和闪光幻觉）和非视觉症状（有或无先兆的偏头痛，耳鸣和偶发性震颤）。"},"tr":{"name":"Karlı görüş sendromu"}},"xrefs":[{"source":"ICD-10","code":"H53.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"806322116"},{"source":"MONDO","code":"0018486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000726567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4324662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12062","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079450","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-26","source":"34393980[PMID]_36788360[PMID]_34671311[PMID]_31714263[PMID]_29140814[PMID]","terms":[{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5200217","label":"Depersonalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5200218","label":"Derealization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031987","label":"Diminished ability to concentrate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6001103","label":"Entoptic phenomenon","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033630","label":"Brain fog","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012173","label":"Orthostatic tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002077","label":"Migraine with aura","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"}]}}