{"orpha":637061,"name":"Isolated optic nerve hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the ''double-ring'' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-637061/","orphanet_url":"https://www.orpha.net/en/disease/detail/637061","names":{"fr":{"name":"Hypoplasie isolée du nerf optique","definition":"Anomalie rare du développement embryonnaire caractérisée par un sous-développement du nerf optique dont le nombre d'axones est inférieur à la normale. L'affection peut être unilatérale ou bilatérale et survenir sous une forme isolée ou associée à d'autres anomalies oculaires ou cérébrales. L'examen du fond d'oeil révèle un disque optique de petite taille, souvent associé au signe du « double anneau », un anneau hypo- ou hyperpigmenté entourant le disque. Sur le plan clinique, la vision peut être gravement altérée ou rester intacte."},"de":{"name":"Sehnerv-Hypoplasie, isolierte","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch eine Unterentwicklung des Sehnervs mit einer subnormalen Anzahl von Sehnervenaxonen gekennzeichnet ist. Die Erkrankung kann einseitig oder beidseitig auftreten und als isolierter Defekt oder in Verbindung mit anderen Augen- oder Hirnanomalien auftreten. Die Funduskopie zeigt eine kleine Papille, die oft mit dem ,,Doppelring''-Zeichen, einem Ring aus Hypo- oder Hyperpigmentierung, der die Papille umgibt, verbunden ist. Klinisch kann das Sehvermögen stark beeinträchtigt sein oder unbeeinträchtigt bleiben."},"es":{"name":"Hipoplasia aislada del nervio óptico","definition":"Es un defecto poco común del desarrollo durante la embriogénesis caracterizado por un desarrollo insuficiente del nervio óptico, que presenta un número inferior al normal de axones. El trastorno puede ser uni- o bilateral y puede ocurrir como un defecto aislado o acompañar a otras anomalías oculares o cerebrales. La exploración del fondo de ojo revela un disco óptico pequeño, a menudo asociado con el signo del \"doble anillo\", un anillo hipo- o hiperpigmentado que rodea al disco. Clínicamente, la visión puede verse gravemente afectada o permanecer intacta."},"it":{"name":"Ipoplasia isolata del nervo ottico"},"nl":{"name":"Geïsoleerde hypoplasie van oogzenuw","synonyms":["Geïsoleerde hypoplasie van nervus opticus"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door onderontwikkeling van nervus opticus met lager dan normaal aantal axonen van oogzenuw. De aandoening kan unilateraal of bilateraal zijn, en kan optreden als een geïsoleerd defect of gepaard gaan met andere afwijkingen van oog of hersenen. Fundoscopie toont een kleine oogzenuwkop, vaak geassocieerd met het 'dubbele ring' verschijnsel, een ring van hypo- of hyperpigmentatie die de oogzenuwkop omringt. Klinisch kan het zicht ernstig verstoord zijn of onaangetast blijven."},"pt":{"name":"Hipoplasia isolada do nervo óptico","definition":"Defeito raro do desenvolvimento durante a embriogénese, caracterizado por subdesenvolvimento do nervo ótico com um número subnormal de axónios do nervo ótico. A patologia pode ser unilateral ou bilateral e pode ocorrer como um defeito isolado ou acompanhar outras anomalias oculares ou cerebrais. O exame fundoscópico revela um disco óptico pequeno, frequentemente associado ao sinal do ''anel duplo'', um anel de hipo ou hiperpigmentação que circunda o disco. Clinicamente, a visão pode ficar gravemente prejudicada ou permanecer inalterada."},"pl":{"name":"Izolowana hipoplazja nerwu wzrokowego"},"cs":{"name":"Izolovaná hypoplázie zrakového nervu"},"uk":{"name":"Ізольована гіпоплазія зорового нерва","definition":"A rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the ''double-ring'' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected."}},"xrefs":[{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.70","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"609162974"},{"source":"MONDO","code":"0008136","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8136","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563492","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510723","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":137902,"name":"OBSOLETE: Isolated optic nerve hypoplasia/aplasia","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":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"24082663[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24082663[PMID]_ORPHANET"}],"phenotypes":null}