{"orpha":238763,"name":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Megalocornea-spherophakia-secondary glaucoma syndrome"],"definition":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238763/","orphanet_url":"https://www.orpha.net/en/disease/detail/238763","names":{"fr":{"name":"Glaucome secondaire à une sphérophakie/ectopie du cristallin et mégalocornée","synonyms":["Syndrome de mégalocornée-sphérophakie-glaucome secondaire"],"definition":"Anomalie du développement de l'oeil d'origine génétique, rare et non syndromique, caractérisée par une mégalocornée congénitale associée à une sphérophakie et/ou à une ectopie du cristalin entraînant un blocage pupillaire et un glaucome secondaire. Les autres caractéristiques peuvent inclure un iris plateau, une iridodonésis, une myopie axiale, des chambres antérieures très profondes, des pupilles myotiques et ovales sans bords bien définis, une douleur et une irritation oculaires se manifestant par une injection conjonctivale, un oedème cornéen et une cicatrice centrale, ainsi qu'un palais ogival."},"de":{"name":"Megalokornea - Sphärophakie - sekundäres Glaukom"},"es":{"name":"Glaucoma secundario a esferofaquia/ectopia lentis y megalocórnea","definition":"El glaucoma secundario a esferofaquia / ectopia lentis y megalocórnea es un defecto no sindrómico del desarrollo ocular, genético y poco frecuente, caracterizado por megalocórnea congénita asociada a esferofaquia y/o ectopia lentis, que conduce a un bloqueo pupilar y glaucoma secundario. Otras características adicionales pueden incluir iris plano, iridodonesis, miopía axial, cámaras anteriores muy profundas, pupilas mióticas ovaladas sin bordes definidos, dolor ocular e irritabilidad que se manifiestan como inyección conjuntival, edema corneal y cicatrización central, así como paladar ojival."},"it":{"name":"Glaucoma secondario a sferofachia/dislocazione del cristallino e megalocornea","definition":"Il glaucoma secondario alla sferofachia/dislocazione del cristallino con megalocornea è un difetto genetico raro, non sindromico, dello sviluppo dell'occhio, caratterizzato dalla megalocornea congenita associata alla sferofachia e/o dislocazione del cristallino, con conseguente blocco pupillare e glaucoma secondario. Altri segni clinici sono l'appiattimento dell'iride, l'iridodonesi, la miopia assiale, l'aumentata profondità delle camere anteriori, le pupille ovali miotiche con bordi scarsamente delimitati, il dolore oculare e l'irritabilità, che si manifestano con l'iniezione congiuntivale, l'edema della cornea, la formazione di cicatrici centrali e il palato ogivale."},"nl":{"name":"Glaucoom secundair aan sferofakie/ectopia lentis en megalocornea","synonyms":["Megalocornea - sferofakie - secundair glaucoom-syndroom"],"definition":"Glaucoom secundair aan sferofakie/ectopia lentis en megalocornea is een zeldzaam, genetisch, niet-syndromaal ontwikkelingsdefect van het oog dat gekarakteriseerd wordt door congenitale megalocornea geassocieerd met sferofakie en/of ectopia lentis, die leiden tot pupilblok en secundair glaucoom. Mogelijke bijkomende kenmerken zijn onder meer platte irissen, iridodonesis, axiale myopie, zeer diepe voorste oogkamers, miotische en ovale pupillen zonder duidelijke grenzen, oculaire pijn en geïrriteerdheid die zich manifesteert als conjunctivale injectie, cornea-oedeem en centrale littekenvorming, alsook een hoog gebogen verhemelte."},"pt":{"name":"Megalocórnea - esferofaquia - glaucoma secundário"},"pl":{"name":"Jaskra wtórna do soczewki kulistej/ektopia soczewki i rogówka olbrzymia","synonyms":["Rogówka olbrzymia - soczewka kulista - jaskra wtórna"],"definition":"*Jaskra wtórna do soczewki kulistej/ektopia soczewki i rogówka olbrzymia jest rzadką, genetycznie uwarunkowaną, izolowaną wadą rozwojową oka, która charakteryzuje się wrodzoną rogówką olbrzymią, powiązaną z soczewką kulistą i/lub ektopią soczewki, co prowadzi do blokady źrenic i wtórnej jaskry. Dodatkowe cechy mogą obejmować płaskie tęczówki, drżenie tęczówki, krótkowzroczność osiową, bardzo głębokie komory przednie, miotyczne, owalne źrenice bez wyraźnych zarysowanych granic, ból i podrażnienie oczu manifestujące się zapaleniem spojówek, obrzęk rogówki i centralne bliznowacenie, a także wysokie podniebienie."},"cs":{"name":"Sekundární glaukom se sférofakií/ectopia lentis a megalokornea","synonyms":["Syndrom zahrnující megalokornea, sférofakii a sekundární glaukom"]},"uk":{"name":"Глаукома, вторинна по відношенню до сферофакії/ектопії кришталика та мегалокорнеа","synonyms":["Синдром мегалокорнеа-сферофакії-вторинної глаукоми"],"definition":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate."},"zh":{"name":"球形晶状体/晶状体异位及巨角膜继发性青光眼","synonyms":["巨角膜-球形晶状体-继发性青光眼综合征"],"definition":"继发于球形/异位晶状体和巨角膜的青光眼是一种罕见的、遗传的、非综合征性的眼部发育缺陷疾病，其特征是先天性巨角膜与球形和/或异位晶状体导致瞳孔阻塞和继发性青光眼。其他特征可能包括虹膜扁平、虹膜震颤、轴性近视、前房深、瞳孔缩小、无明确边界的卵圆形瞳孔、以结膜充血、角膜水肿和中央疤痕为表现的眼睛疼痛和易激惹，以及高腭弓。"},"tr":{"name":"Sferofakya/ektopya lentis ve megalokorneaya sekonder glokom","synonyms":["Megalokornea-sferofaki-sekonder glokom sendromu"]}},"xrefs":[{"source":"OMIM","code":"251750","qualifier":"NTBT","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190883","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10942","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98631,"name":"Congenital malformation of the eye with glaucoma as a major feature","classifications":[147,189]},{"orpha":525677,"name":"Genetic congenital malformation of the eye with glaucoma as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"LTBP2","name":"latent transforming growth factor beta binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20179738[PMID]_22025892[PMID]","hgnc":"6715","ensembl":"ENSG00000119681","omim":"602091","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"22025892[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22025892[PMID]"}],"phenotypes":null}