{"orpha":637064,"name":"Isolated optic nerve aplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-637064/","orphanet_url":"https://www.orpha.net/en/disease/detail/637064","names":{"fr":{"name":"Aplasie isolée du nerf optique","definition":"Anomalie rare du développement embryonnaire caractérisée par l'absence congénitale de la tête du nerf optique, des fibres du nerf optique, des cellules ganglionnaires rétiniennes et des vaisseaux sanguins de la rétine dans un oeil malformé. L'anomalie est souvent unilatérale, le développement cérébral étant par ailleurs normal. Dans les cas bilatéraux, elle s'accompagne d'autres malformations du système nerveux central."},"de":{"name":"Sehnerv-Aplasie, isolierte","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch das angeborene Fehlen des Sehnervenkopfes, der Sehnervenfasern, der retinalen Ganglienzellen und der retinalen Blutgefäße in einem fehlgebildeten Auge gekennzeichnet ist. Sie tritt oft einseitig auf, während die Entwicklung des Gehirns ansonsten normal verläuft. In Fällen, in denen beide Augen betroffen sind, geht sie mit anderen Fehlbildungen des zentralen Nervensystems einher."},"es":{"name":"Aplasia aislada del nervio óptico","definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por la ausencia congénita de la cabeza del nervio óptico, de las fibras del nervio óptico, de las células ganglionares de la retina y de los vasos retinianos en un ojo malformado. A menudo ocurre unilateralmente con un desarrollo cerebral por lo demás normal. En los casos bilaterales se acompaña de otras malformaciones del sistema nervioso central."},"it":{"name":"Aplasia isolata del nervo ottico"},"nl":{"name":"Geïsoleerde aplasie van oogzenuw","synonyms":["Geïsoleerde aplasie van nervus opticus"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door congenitale afwezigheid van papil, oogzenuwvezels, retinale ganglioncellen, en retinale bloedvaten in een misvormd oog. Het treedt vaak unilateraal op, met voor het overige normale ontwikkeling van hersenen. In bilaterale gevallen gaat het gepaard met andere malformaties van centraal zenuwstelsel."},"pt":{"name":"Aplasia isolada do nervo óptico","definition":"Defeito raro do desenvolvimento durante a embriogénese, caracterizado por ausência congénita da cabeça do nervo ótico, das fibras do nervo ótico, das células ganglionares da retina e dos vasos sanguíneos da retina num olho malformado. Muitas vezes ocorre unilateralmente com desenvolvimento cerebral normal. Nos casos bilaterais, é acompanhada por outras malformações do sistema nervoso central."},"pl":{"name":"Izolowana aplazja nerwu wzrokowego"},"cs":{"name":"Izolovaná aplázie zrakového nervu"},"uk":{"name":"Ізольована аплазія зорового нерва","definition":"A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations."}},"xrefs":[{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.71","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1185936109"},{"source":"MONDO","code":"0958342","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958342","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816782","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2705,"name":"OBSOLETE: Oculocerebral dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":522512,"name":"Rare genetic optic nerve disorder","classifications":[156]},{"orpha":519351,"name":"Rare optic nerve disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"29676329[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29676329[PMID]_ORPHANET"}],"phenotypes":null}