{"orpha":98945,"name":"Coloboma of macula","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98945/","orphanet_url":"https://www.orpha.net/en/disease/detail/98945","names":{"fr":{"name":"Colobome maculaire","definition":"Le colobome maculaire est une anomalie rare et non syndromique du développement oculaire. Il se caractérise par des lésions atrophiques ovales ou arrondies, bien circonscrites, de différentes tailles et généralement unilatérales, donnant lieu à une rétine, une choroïde et une sclère rudimentaire ou absente au sein de la macula. Cela conduit à une diminution de la vision et occasionnellement à d'autres symptômes (par ex. un strabisme). Le colobome maculaire est habituellement isolé, mais il peut aussi être associé à la trisomie 21, ou à des troubles squelettiques ou rénaux."},"de":{"name":"Makulakolobom","definition":"Das Makulakolobom ist eine seltene, nicht-syndromale Entwicklungsstörung des Auges, die durch gut umschriebene, ovale oder runde, meist einseitige, atrophische Läsionen unterschiedlicher Größe mit rudimentärer oder fehlender Retina, Aderhaut und Sklera an der Makula gekennzeichnet ist und zu vermindertem Sehvermögen und gelegentlich zu anderen Symptomen (z. B. Schielen) führt. Sie tritt meist isoliert auf, kann aber auch mit Down-Syndrom, Skelett- oder Nierenerkrankungen assoziiert sein."},"es":{"name":"Coloboma macular","definition":"El coloboma macular es un defecto no-sindrómico del desarrollo del ojo caracterizado por lesiones atróficas bien circunscritas, ovales o redondeadas, generalmente unilaterales, de tamaño variable que presentan una retina rudimentaria o ausente, coroides y esclerótica localizadas en la mácula que conducen a una disminución de la visión y, en ocasiones, otros síntomas (tales como el estrabismo). Por lo general, se presenta de forma aislada, pero también puede estar asociado con el síndrome de Down, trastornos esqueléticos o renales."},"it":{"name":"Coloboma maculare","definition":"Il coloboma della macula è un difetto raro non sindromico dello sviluppo dell'occhio, caratterizzato da lesioni atrofiche, di solito monolaterali, ben circoscritte, ovali o rotonde, di dimensioni variabili; la retina, la coroide e la sclera sono rudimentali o assenti; le lesioni si localizzano sulla macula causando una diminuzione della vista e, raramente, altri sintomi (strabismo). Di solito il coloboma è isolato, ma può associarsi alla sindrome di Down, a malattie scheletriche o renali."},"nl":{"name":"Coloboom van macula","synonyms":["Maculacoloboom"],"definition":"Coloboom van de macula is een zeldzaam, niet-syndromaal ontwikkelingsdefect van het oog dat wordt gekarakteriseerd door goed begrensde, ovale of ronde, meestal unilaterale, atrofische letsels met variabele omvang, en dat zich uit met rudimentair of afwezig netvlies, vaatvlies en oogwit in de macula met functieverlies van het zicht tot gevolg, en soms ook andere symptomen (e.g. strabisme). Het is meestal geïsoleerd, maar kan ook geassocieerd zijn met syndroom van Down, of met skelet- of nierstoornissen."},"pt":{"name":"Coloboma da mácula"},"pl":{"name":"Szczelina plamki"},"cs":{"name":"Kolobom makuly"},"uk":{"name":"Колобома макули","definition":"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders."},"zh":{"name":"黄斑缺损","definition":"黄斑缺损是一种罕见的非综合征性眼部发育缺陷，其特征是边界清楚、椭圆形或圆形，通常为单侧的不同大小的萎缩性病变，表现为位于黄斑部的视网膜、脉络膜和巩膜残缺或缺失，导致视力下降，有时还会出现其他症状(如斜视)。它通常是孤立的，但也可能与唐氏综合症、骨骼或肾脏疾病有关。"},"tr":{"name":"Makula kolobomu"}},"xrefs":[{"source":"OMIM","code":"620731","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q14.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"366058642"},{"source":"MONDO","code":"0007351","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852767","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1436","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":717330,"name":"Rare genetic isolated non-progressive predominantly macular disorder","classifications":[156]},{"orpha":716419,"name":"Rare isolated non-progressive predominantly macular disorder","classifications":[189]}],"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":"40672577[PMID]_ORPHANET"}],"phenotypes":null}