{"orpha":519404,"name":"Optic disc pit","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519404/","orphanet_url":"https://www.orpha.net/en/disease/detail/519404","names":{"fr":{"name":"Fossette colobomateuse de la papille","definition":"Maladie ophtalmique rare caractérisée par une dépression dans la papille optique généralement congénitale et unilatérale, ronde ou ovale, de couleur grise, blanche ou jaunâtre. Plusieurs dépressions peuvent être présentes dans un oeil, et la malformation se situe généralement dans l'air inférotemporale du disque optique, bien que n'importe quelle région puisse être concernée. Les patients sont souvent asymptomatiques, ou peuvent manifester des anomalies du champ visuel, en particulier un scotome arciforme paracentral lié à une tache aveugle élargie. Un certain nombre de patients développent un décollement séreux maculaire, la perte de vision devenant généralement manifeste au cours de la troisième ou quatrième décennie de la vie."},"de":{"name":"Grubenpapille","definition":"Eine seltene Augenerkrankung, die durch eine meist angeborene, einseitige, runde oder ovale, graue, weiße oder gelbliche Vertiefung im Sehnervenkopf gekennzeichnet ist. Es kann mehr als eine Vertiefung in einem Auge geben, und die Anomalie ist am häufigsten im inferotemporalen Bereich des Sehnervenkopfes lokalisiert, obwohl jeder Bereich betroffen sein kann. Die Patienten sind häufig asymptomatisch oder zeigen Gesichtsfelddefekte, insbesondere ein parazentrales Bogengang-Skotom in Verbindung mit einem vergrößerten blinden Fleck. Bei einigen Patienten entwickelt sich eine seröse Makulaabhebung, wobei der Sehverlust typischerweise im dritten oder vierten Lebensjahrzehnt auftritt."},"es":{"name":"Fosa del disco óptico","definition":"Es un trastorno oftálmico poco frecuente caracterizado por la presencia de una depresión, generalmente congénita, unilateral, redondeada u ovalada, gris, blanquecina o amarillenta en el disco óptico. Puede haber más de una fosa presente en un ojo, y la anomalía se encuentra más comúnmente en la región inferotemporal del disco óptico, aunque puede afectar a cualquier sector. Los pacientes suelen permanecer asintomáticos o pueden presentar defectos del campo visual, en particular escotoma arciforme paracentral conectado a un punto ciego agrandado. Algunos pacientes desarrollan desprendimiento seroso de mácula, y la pérdida de la visión suele manifestarse en la tercera o cuarta década de la vida."},"it":{"name":"Infossamento del disco ottico","definition":"Si tratta di una malattia oculare rara, caratterizzata da una depressione del disco ottico, di solito congenita e monolaterale, rotonda o ovale, grigia, bianca o giallastra. In uno stesso occhio possono essere presenti più depressioni. In genere l'anomalia si localizza nella regione inferotemporale del disco ottico, ma può interessare qualsiasi settore. Spesso i pazienti sono asintomatici oppure presentano difetti del campo visivo, in particolare uno scotoma arcuato paracentrale collegato ad un punto cieco più grande del normale. Alcuni pazienti sviluppano un distacco sieroso della macula associato alla perdita della vista, che di solito si manifesta nella terza o quarta decade di vita."},"nl":{"name":"Putje in papil","definition":"Een zeldzame aandoening van oog, gekarakteriseerd door een meestal congenitale en unilaterale, ronde of ovale, grijze, witte of gelige depressie in papil. Er kan meer dan een kuiltje aanwezig zijn in een oog, en doorgaans wordt de anomalie aangetroffen in de inferotemporale regio van de oogzenuwkop, hoewel elke sector betrokken kan zijn. Patiënten zijn vaak symptomatisch, of presenteren zich met gezichtsvelddefecten, vooral paracentraal boogscotoom geassocieerd met een vergrote blinde vlek. Een aantal patiënten ontwikkelt sereuze loslating van macula, met verlies van gezichtsvermogen dat doorgaans merkbaar wordt in het derde of vierde levensdecennium."},"pt":{"name":"Disco óptico escavado"},"pl":{"name":"Dołek rozwojowy tarczy nerwu wzrokowego"},"cs":{"name":"Jamka terče zrakového nervu"},"uk":{"name":"Яма оптичного диска","definition":"A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life."},"zh":{"name":"视神经盘凹陷"},"tr":{"name":"Optik disk çukuru"}},"xrefs":[{"source":"ICD-10","code":"Q14.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1988930209"},{"source":"MONDO","code":"0034981","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338504","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079967","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}