{"orpha":464760,"name":"Familial cavitary optic disc anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Familial CODA"],"definition":"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464760/","orphanet_url":"https://www.orpha.net/en/disease/detail/464760","names":{"fr":{"name":"Excavation papillaire familiale","definition":"Maladie génétique rare de l'oeil caractérisée par une excavation congénitale profonde de la papille optique et une diminution du champ visuel, en l'absence de pression intraoculaire élevée. Chez de nombreux patients, l'artère centrale de la rétine n'est pas correctement formée, on observe plutôt de nombreuses artères cilio-rétiniennes radiales. Dans la plupart des cas, la maladie est bilatérale et peut s'aggraver progressivement, la complication la plus courante étant un décollement maculaire séreux provoquant une déficience visuelle profonde."},"de":{"name":"Familiäre kavitäre Papillenanomalie","synonyms":["Familiäre CODA"],"definition":"Eine seltene genetisch bedingte Augenkrankheit, die durch eine angeborene tiefe Exkavation des Sehnervenkopfes mit eingeschränktem Gesichtsfeld gekennzeichnet ist, ohne dass ein erhöhter Augeninnendruck vorliegt. Vielen Patienten fehlt eine gut ausgebildete Netzhautarterie, stattdessen haben sie mehrere radiale zilioretinale Arterien. Die Erkrankung ist meist beidseitig, kann sich fortschreitend verschlechtern und wird häufig durch eine seröse Makulaablösung mit tiefem Sehverlust kompliziert."},"es":{"name":"Anomalía cavitaria familiar del disco óptico","synonyms":["CODA familiar"],"definition":"Es una enfermedad ocular genética poco frecuente caracterizada por una excavación congénita profunda de la cabeza del nervio óptico con reducción del campo visual en ausencia de una elevación de la presión intraocular. Muchos pacientes carecen de una arteria retiniana bien formada y en su lugar presentan múltiples arterias ciliorretinianas radiales. La afección es principalmente bilateral, puede empeorar progresivamente y a menudo se complica por un desprendimiento macular seroso con una pérdida visual profunda."},"it":{"name":"Anomalia cavitaria familiare del disco ottico","definition":"Si tratta di una malattia oculare genetica rara, caratterizzata da una profonda escavazione congenita della testa del nervo ottico, associata ad una riduzione del campo visivo, in assenza di un'elevata pressione intraoculare. Molti pazienti non hanno un'arteria retinica normo-formata, che invece è rimpiazzata da più arterie cilio-retiniche radiali. La malattia è di solito bilaterale, può aggravarsi progressivamente e spesso si associa a complicanze compreso il distacco sieroso della macula che comporta una grave perdita della vista."},"nl":{"name":"Familiale cavitaire papilafwijking","synonyms":["Familiale CODA"],"definition":"Een zeldzame, genetische oogaandoening, gekarakteriseerd door congenitale, zeer ernstige excavatie van papil met vermindering van gezichtsveld, in afwezigheid van verhoogde intraoculaire druk. Vele patiënten missen een goedgevormde retinale arterie en hebben in plaats daarvan multipele radiale cilioretinale arteriën. De aandoening is overwegend bilateraal, kan progressief verergeren, en wordt vaak gecompliceerd door sereuze loslating van macula met zeer ernstig verlies van gezichtsvermogen."},"pt":{"name":"Anomalia do disco óptico cavitário familiar"},"pl":{"name":"Rodzinna jamista anomalia tarczy nerwu wzrokowego","synonyms":["Rodzinna CODA"]},"cs":{"name":"Familiární dutinková anomálie papily","synonyms":["Familial CODA","Familiární CODA"]},"uk":{"name":"Сімейна порожнинна аномалія диска зорового нерва","synonyms":["Сімейна CODA"],"definition":"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss."},"zh":{"name":"家族性空洞性视盘异常","synonyms":["家族性CODA"]},"tr":{"name":"Ailesel kaviter optik disk anomalisi","synonyms":["Ailesel CODA"]}},"xrefs":[{"source":"OMIM","code":"611543","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q14.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969063","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519333,"name":"Congenital optic disc excavation","classifications":[147,189]},{"orpha":522514,"name":"Congenital optic disc excavation of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"MMP19","name":"matrix metallopeptidase 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25581579[PMID]","hgnc":"7165","ensembl":"ENSG00000123342","omim":"601807","loci":["12q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25581579[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"25581579[PMID]"}],"phenotypes":null}