{"orpha":91489,"name":"Isolated congenital megalocornea","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital anterior megalophthalmia"],"definition":"Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91489/","orphanet_url":"https://www.orpha.net/en/disease/detail/91489","names":{"fr":{"name":"Mégalocornée isolée congénitale","synonyms":["Mégalophtalmie antérieure congénitale"],"definition":"La mégalocornée isolée congénitale est une anomalie génétique non syndromique du développement du segment antérieur de l'oeil, caractérisé par un élargissement bilatéral du diamètre cornéen (> 12,5 mm) et une chambre oculaire antérieure profonde, sans augmentation de la pression intraoculaire. Elle peut se présenter par une myopie légère à modérée, une photophobie et une iridodonésis (due à une hypoplasie iridienne). Les complications associées incluent un décollement de la rétine, le développement d'une cataracte présénile et un glaucome secondaire."},"de":{"name":"Megalokornea, isolierte kongenitale","synonyms":["Megalophthalmus anterior, kongenitaler"],"definition":"Die isolierte kongenitale Megalokornea ist ein genetischer, nicht-syndromaler Entwicklungsdefekt des vorderen Augensegments, der durch eine beidseitige Vergrößerung des Hornhautdurchmessers (› 12,5 mm) und eine tiefe vordere Augenkammer gekennzeichnet ist, ohne dass es zu einer Erhöhung des Augeninnendrucks kommt. Sie kann sich mit leichter bis mittlerer Myopie sowie Photophobie und Iridodonesis (aufgrund einer Iris-Hypoplasie) manifestieren. Zu den assoziierten Komplikationen gehören Linsenluxation, Netzhautablösung, präsenile Kataraktentwicklung und Sekundärglaukom."},"es":{"name":"Megalocórnea aislada congénita","synonyms":["Megaloftalmia anterior congénita"],"definition":"La megalocórnea aislada congénita es un defecto genético, no sindrómico, del desarrollo del segmento anterior del ojo, caracterizado por aumento bilateral del diámetro corneal (> 12,5 mm) y por una cámara ocular anterior profunda, sin aumento de la presión intraocular. Puede manifestarse con miopía de leve a moderada, así como fotofobia e iridodonesis (debido a la hipoplasia del iris). Las complicaciones asociadas incluyen dislocación de la lente, desprendimiento de retina, desarrollo de cataratas preseniles y glaucoma secundario."},"it":{"name":"Megalocornea isolata congenita","synonyms":["Megaloftalmia anteriore congenita"],"definition":"La megalocornea isolata congenita è un difetto genetico, non sindromico, dello sviluppo del segmento anteriore dell'occhio, caratterizzato dall'aumento del diametro delle cornee (>12,5 mm) e della profondità della camera anteriore dell'occhio, in assenza di un aumento della pressione intraoculare. Esordisce con una miopia lieve-moderata, fotofobia e iridodonesi (secondaria all'ipoplasia dell'iride). Le complicanze associate comprendono la dislocazione del cristallino, il distacco della retina, lo sviluppo di cataratta presenile e il glaucoma secondario."},"nl":{"name":"Geïsoleerde congenitale megalocornea","synonyms":["Congenitale anterieure megaloftalmie"],"definition":"Geïsoleerde congenitale megalocornea is een genetisch, niet-syndromaal ontwikkelingsdefect van het voorste oogsegment dat gekarakteriseerd wordt door bilaterale toename van de diameter van het hoornvlies (>12,5 mm) en een diepe voorste oogkamer, zonder een verhoging van de intra-oculaire druk. De ziekte kan zich uiten met milde tot matige myopie, alsook fotofobie en iridodonesis (door hypoplasie van de iris). Geassocieerde complicaties zijn onder meer lensdislocatie, loslating van het netvlies, preseniele ontwikkeling van cataract, en secundair glaucoom."},"pt":{"name":"Megalocórnea congénita isolada"},"pl":{"name":"Izolowana wrodzona rogówka olbrzymia","synonyms":["Congenital anterior megalophthalmia"]},"cs":{"name":"Izolovaná vrozená megalokornea","synonyms":["Kongenitální anteriorní megaloftalmie"]},"uk":{"name":"Ізольована вроджена мегалокорнеа","synonyms":["Вроджена передня мегалофтальмія"],"definition":"Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma."},"zh":{"name":"孤立型先天性巨大角膜","synonyms":["先天性前巨眼"],"definition":"孤立性先天性巨角膜是一种遗传性、非综合征性的眼前节发育缺陷，其特征是双侧角膜直径增大（ inf 12.5 mm）和前房加深，而眼压无升高。它可以表现为轻度至中度近视、畏光和虹膜震颤（由虹膜发育不良所致）。相关并发症包括晶状体脱位、视网膜脱离、老年前期白内障和继发性青光眼。"},"tr":{"name":"İzole doğumsal megalokornea","synonyms":["Doğumsal anterior megaloftalmi"]}},"xrefs":[{"source":"OMIM","code":"309300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA11.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"58849242"},{"source":"MONDO","code":"0010649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518341","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12648","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98635,"name":"Corneodysgenesis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"CHRDL1","name":"chordin like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22284829[PMID]","hgnc":"29861","ensembl":"ENSG00000101938","omim":"300350","loci":["Xq23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":[],"prevalence":[],"phenotypes":null}