{"orpha":447788,"name":"Cerebral visual impairment","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cortical visual impairment"],"definition":"A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447788/","orphanet_url":"https://www.orpha.net/en/disease/detail/447788","names":{"fr":{"name":"Cécité corticale","definition":"Maladie neurologique rare caractérisée par un trouble visuel important qui ne s'explique pas par des anomalies oculaires, dû à une lésion postchiasmatiques le long des voies visuelle survenue très tôt lors du développement embryonnaire. Les signes cliniques et les symptômes sont une diminution de l'acuité visuelle, des troubles du champ visuel, du traitement perceptif visuel et des troubles de déficit de l'attention."},"de":{"name":"Zerebrale visuelle Verarbeitungsstörungen","synonyms":["Kortikale visuelle Verarbeitungsstörungen"],"definition":"Eine seltene neurologische Erkrankung, die durch erhebliche Sehstörungen gekennzeichnet ist, die sich nicht allein durch okuläre Anomalien erklären lassen und auf eine Schädigung der postchiasmatischen Sehbahnen und Strukturen während der frühen perinatalen Entwicklung zurückzuführen sind. Zu den Anzeichen und Symptomen gehören verminderte Sehschärfe, Gesichtsfelddefekte und Beeinträchtigungen der visuellen Verarbeitung und Aufmerksamkeit."},"es":{"name":"Discapacidad visual cerebral","synonyms":["Discapacidad visual cortical"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por una disfunción visual significativa que no puede explicarse únicamente por anomalías oculares, y se debe al daño de las vías y estructuras visuales postquiasmáticas durante el desarrollo perinatal temprano. Los signos y síntomas incluyen disminución de la agudeza visual, alteraciones del campo visual y problemas en el procesamiento visual y de atención."},"it":{"name":"Deficit visivo cerebrale","synonyms":["Deficit visivo corticale"],"definition":"Si tratta di una malattia neurologica rara, caratterizzata da marcata disfunzione visiva, non riconducibile ad anomalie oculari, causata da una lesione delle vie e delle strutture ottiche post-chiasmatiche durante le prime fasi dello sviluppo perinatale. I segni clinici comprendono la riduzione dell'acuità visiva, i difetti del campo visivo e i defciit dell'elaborazione visiva e dell'attenzione."},"nl":{"name":"Cerebrale visuele beperking","synonyms":["Corticale visuele beperking"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door significante visuele disfunctie die niet enkel door oogafwijkingen kan verklaard worden en die te wijten is aan beschadiging van postchiasmatische visuele signaalwegen en structuren tijdens de vroege perinatale ontwikkeling. Tekenen en symptomen zijn onder meer verminderde gezichtsscherpte, gezichtsvelddefecten, en verstoring van visuele informatieverwerking en attentie."},"pt":{"name":"Incapacidade visual cerebral"},"pl":{"name":"Mózgowe uszkodzenie wzroku","synonyms":["Korowe uszkodzenie wzroku"]},"cs":{"name":"Centrální porucha zraku","synonyms":["Kortikální porucha zraku"]},"uk":{"name":"Церебральні порушення зору","synonyms":["Кортикальні порушення зору"],"definition":"A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention."},"zh":{"name":"脑视觉障碍","synonyms":["皮层视区受损"],"definition":"一种罕见的神经系统疾病，其特征在于严重的视觉功能障碍，不能仅通过眼部异常来解释，并且是由于围产期早期发育过程中的后趋性视觉路径和结构受损所致。体征和症状包括视力下降，视野缺损以及视力处理和注意力受损。"},"tr":{"name":"Serebral görme bozukluğu","synonyms":["Kortikal görme bozukluğu"]}},"xrefs":[{"source":"ICD-10","code":"H47.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C43","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810365","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-18","source":"31546476 [PMID]_31548019[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002060","label":"Abnormal cerebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030800","label":"Abnormal visual accommodation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007009","label":"Central nervous system degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000641","label":"Dysmetric saccades","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025315","label":"Exacerbated by head trauma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032046","label":"Focal cortical dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012796","label":"Increased cup-to-disc ratio","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002180","label":"Neurodegeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500049","label":"Retinopathy of prematurity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011450","label":"Unusual CNS infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025405","label":"Visual fixation instability","frequency":"Occasional (29-5%)","criteria":null}]}}