{"orpha":98947,"name":"Coloboma of optic disc","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Coloboma of optic papilla"],"definition":"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98947/","orphanet_url":"https://www.orpha.net/en/disease/detail/98947","names":{"fr":{"name":"Colobome papillaire","definition":"Un trouble génétique rare du développement oculaire. Il se caractérise par une excavation bien délimitée, blanc brillant et en forme de bol du disque optique (typiquement décentralisée au niveau inférieur du disque). Il peut être unilatéral ou bilatéral, et se manifeste habituellement par une réduction de l'acuité visuelle de sévérité variable. Il peut être isolé ou associé à d'autres anomalies oculaires (comme un décollement rétinien, une séparation de type rétinoschisis) ou systémiques (comme des anomalies rénales)."},"de":{"name":"Papillenkolobom","synonyms":["Kolobom der Papilla nervi optici"],"definition":"Das Papillenkolobom ist ein seltener, genetisch bedingter Entwicklungsdefekt des Auges, der durch eine ein- oder beidseitige, scharf begrenzte, schüsselförmige, glänzend weiße Exkavation am Sehnervenkopf (typischerweise dezentriert nach unten) gekennzeichnet ist. Die Patienten präsentieren sich typischerweise mit einer Verringerung der Sehschärfe von unterschiedlichem Schweregrad. Es kann isoliert auftreten oder mit anderen okulären (z. B. Netzhautablösung, retinoschisisartige Ablösung) oder systemischen Anomalien (z. B. Nieren) assoziiert sein."},"es":{"name":"Coloboma del disco óptico","synonyms":["Coloboma de las papilas ópticas"],"definition":"El coloboma del disco óptico, es un defecto genético poco frecuente del desarrollo ocular caracterizado por una excavación bien demarcada en forma de cuenco en el disco óptico, de color blanco, brillante, por lo general descentrada (inferiormente), uni- o bilateral que se manifiesta con diversos grados de agudeza visual reducida. Puede presentarse de forma aislada o asociado a otras anomalías oculares (p. ej., desprendimiento de retina, separación tipo retinosquisis) o sistémicas (p. ej., renal)."},"it":{"name":"Coloboma del disco ottico","definition":"Il coloboma del disco ottico è un difetto genetico raro dello sviluppo dell'occhio, caratterizzato dalla presenza di una cavità bianca luccicante localizzata sul disco ottico, mono- o bi-laterale, nettamente delineata, a forma di ciotola, di solito decentrata verso la porzione inferiore. In genere i pazienti presentano una riduzione dell'acuità visiva di gravità variabile. Il difetto può essere isolato oppure associarsi ad altre anomalie oculari (distacco della retina, separazione simil-retinoschisi), oppure sistemiche (renali)."},"nl":{"name":"Coloboom van papil","synonyms":["Coloboom van papilla nervi optici"],"definition":"Coloboom van de optische papil is een zeldzaam, genetisch ontwikkelingsdefect van het oog, en wordt gekarakteriseerd door een unilaterale of bilaterale, scherp begrensde, komvormige, glinsterende witte uitholling (excavatie) op de oogzenuwkop (doorgaans gedecentreerd naar beneden) die zich meestal manifesteert met wisselende gradaties van verminderde gezichtsscherpte. Het kan geïsoleerd voorkomen, of geassocieerd zijn met andere oculaire (e.g. netvliesloslating, retinoschisis-achtige splijting) of systemische anomalieën (e.g. renaal)."},"pt":{"name":"Coloboma do disco óptico","synonyms":["Coloboma da papila óptica"]},"pl":{"name":"Szczelina tarczy nerwu wzrokowego","synonyms":["Szczelina brodawki nerwu wzrokowego"]},"cs":{"name":"Kolobom papily zrakového nervu","synonyms":["Coloboma of optic papilla"]},"uk":{"name":"Колобома диска зорового нерва","synonyms":["Колобома сосочка зорового нерва"],"definition":"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)."},"zh":{"name":"视盘缺损","synonyms":["视乳头缺损"],"definition":"视盘缺损是一种罕见的遗传性、发育性眼部缺陷，其特征是视盘上有单侧或双侧、界限清晰、碗形、明显的白色突起(通常向下偏)，通常表现为不同程度的视力下降。它可以是孤立性的，也可与其他眼部(如视网膜脱离、视网膜劈裂样分离)或全身性异常(如肾脏)合并。"},"tr":{"name":"Optik disk kolobomu","synonyms":["Optik papilla koloboması"]}},"xrefs":[{"source":"OMIM","code":"620731","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q14.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA13.76","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"592278969"},{"source":"UMLS","code":"C0155299","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1438","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":"FZD5","name":"frizzled class receptor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26908622[PMID]","hgnc":"4043","ensembl":"ENSG00000163251","omim":"601723","loci":["2q33.3"]},{"symbol":"SALL2","name":"spalt like transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24412933[PMID]","hgnc":"10526","ensembl":"ENSG00000165821","omim":"602219","loci":["14q11.2"]},{"symbol":"ABCB6","name":"ATP binding cassette subfamily B member 6 (LAN blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22226084[PMID]","hgnc":"47","ensembl":"ENSG00000115657","omim":"605452","loci":["2q35"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12721955[PMID]_16604056[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}