{"orpha":98942,"name":"Coloboma of choroid and retina","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98942/","orphanet_url":"https://www.orpha.net/en/disease/detail/98942","names":{"fr":{"name":"Colobome choriorétinien","definition":"Une anomalie génétique rare du développement, survenant au cours de l'embryogenèse. Elle se caractérise par l'absence partielle de la choroïde et de l'épithélium pigmenté rétinien, localisée le plus souvent au niveau du quadrant inféro-nasal. La vision est généralement réduite, et les patients présentent un risque accru de développer un décollement rétinien. D'autres manifestations oculaires sont génréralement associées (comme un colobome irien, une microcornée, un nystagmus, un strabisme, une microphtalmie), mais l'anomalie peut aussi survenir de manière isolée."},"de":{"name":"Kolobom der Chorioidea und Retina","definition":"Das Kolobom der Aderhaut und der Netzhaut ist ein seltener, genetisch bedingter Entwicklungsdefekt während der Embryogenese, der durch das teilweise Fehlen des retinalen Pigmentepithels und der Aderhaut gekennzeichnet ist, am häufigsten im inferonasalen Quadranten. Die Patienten weisen in der Regel eine reduzierte Sehkraft auf und haben ein erhöhtes Risiko für eine Netzhautablösung. Andere okuläre Anomalien (z.B. Kolobom der Iris, Mikrokornea, Nystagmus, Strabismus, Mikrophthalmus) sind meist assoziiert, können aber auch isoliert auftreten."},"es":{"name":"Coloboma corio-retiniano","definition":"El coloboma corio-retiniano es un defecto del desarrollo, genético y poco frecuente durante la embriogénesis que se caracteriza por la ausencia parcial de epitelio pigmentario de la retina y coroides, localizado con mayor frecuencia en el cuadrante inferonasal. Por lo general, los afectados presentan visión reducida y tienen un mayor riesgo de desprendimiento de retina. Generalmente están asociadas otras anomalías oculares (p. ej., coloboma del iris, microcórnea, nistagmo, estrabismo, microftalmia), aunque también puede presentarse de forma aislada."},"it":{"name":"Coloboma corioretinico","definition":"Il coloboma corioretinico è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dalla parziale assenza dell'epitelio pigmentato della retina e della coroide, di solito nel quadrante inferonasale. I pazienti possono presentare riduzione della vista e sono a rischio di distacco della retina. Il coloboma corioretinico può essere isolato, ma in genere si associa ad altri difetti oculari (coloboma dell'iride, microcornea, nistagmo, strabismo, microftalmo)."},"nl":{"name":"Coloboom van choroïd en retina","definition":"Coloboom van choroïd en retina is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door de gedeeltelijke afwezigheid van retinaal pigmentepitheel en vaatvlies, meestal in het inferonasale kwadrant. Patiënten vertonen meestal een verminderd gezichtsvermogen en hebben een verhoogd risico op netvliesloslating. Meestal zijn andere oculaire anomalieën (e.g. iriscoloboom, microcornea, nystagmus, strabisme, microftalmie) geassocieerd, maar de aandoening kan echter ook geïsoleerd voorkomen."},"pt":{"name":"Coloboma da coróide e retina"},"pl":{"name":"Szczelina błony naczyniowej i siatkówki"},"cs":{"name":"Kolobom sítnice a choroidey"},"uk":{"name":"Колобома судинної оболонки та сітківки","definition":"Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated."},"zh":{"name":"脉络膜和视网膜缺损","definition":"脉络膜视网膜缺损是胚胎发育过程中一种罕见的遗传性发育缺陷，其特征是视网膜色素上皮和脉络膜部分缺失，最常位于鼻下象限。患者通常表现为视力下降，视网膜脱离的风险增加，其他眼部异常(如虹膜缺损、小角膜、眼球震颤、斜视、小眼球)通常合并出现，但也可能孤立存在。"},"tr":{"name":"Koroid ve retina kolobomu"}},"xrefs":[{"source":"OMIM","code":"120200","qualifier":"NTBT","icd_relation":null,"validated":true},{"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":"LA13.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"20223105"},{"source":"MONDO","code":"0020354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708599","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":717311,"name":"Rare genetic isolated non-progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":716296,"name":"Rare isolated non-progressive predominantly chorioretinal 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":"ACTG1","name":"actin gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28493397[PMID]","hgnc":"144","ensembl":"ENSG00000184009","omim":"102560","loci":["17q25.3"]},{"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":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}