{"orpha":359,"name":"Pediatric-onset glaucoma of genetic origin","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Hereditary glaucoma"],"definition":"A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-359/","orphanet_url":"https://www.orpha.net/en/disease/detail/359","names":{"fr":{"name":"Glaucome à début pédiatrique d'origine génétique","synonyms":["Glaucome familial"],"definition":"Le glaucome familial est un groupe cliniquement varié de maladies oculaires rares à prédisposition génétique caractérisées par une pression intra-oculaire élevée (PIO) et des altérations glaucomateuses de la tête du nerf optique, à l'origine de troubles du champ visuel, d'une perte de vision et d'une cécité. Le glaucome familial peut être sous-classifié comme forme primaire (glaucome congénital, glaucome juvénile) ou secondaire selon la présence ou l'absence d'anomalies systémiques ou d'autres anomalies oculaires (iridogoniodysgénésie, syndrome de Stickler, syndrome de Coats). La présentation clinique est variable et dépend de l'âge, de la sévérité du glaucome, de la présence d'anomalies oculaires et du développement d'anomalies secondaires liées à la PIO."},"de":{"name":"Glaukom, genetisch bedingtes, mit Beginn im Kindesalter","synonyms":["Glaukom, hereditäres"],"definition":"Das hereditäre Glaukom ist eine klinisch heterogene Gruppe seltener Augenerkrankungen mit genetischer Disposition, deren Kennzeichen ein erhöhter Augeninnendruck und glaukomatöse Veränderungen des Sehnerven sind, die zu Ausfällen des Sehfelds, Verlust der Sehstärke und Blindheit führen. Das hereditäre Glaukom kann als primär (angeborenes bzw. juveniles Glaukom) oder als sekundär klassifiziert werden, je nachdem ob systemische oder andere Augenanomalien (Iridogoniodysgenese, Stickler-Syndrom, Coats-Syndrom; s. diese Termini) vorhanden sind. Die klinische Ausprägung ist unterschiedlich und hängt ab vom Alter, dem Schweregrad des Glaukoms, anderen Augenfehlbildungen und sekundären Störungen, die mit dem erhöhten Augeninnendruck einhergehen."},"es":{"name":"Glaucoma de inicio pediátrico de origen genético","synonyms":["Glaucoma hereditario"],"definition":"Es un grupo clínicamente diverso de trastornos oculares raros de predisposición genética caracterizado por una presión intraocular (PIO) elevada y cambios glaucomatosos en la cabeza del nervio óptico, que provoca defectos en el campo visual, pérdida visual y ceguera. El glaucoma hereditario se puede subclasificar como primario (glaucoma congénito, glaucoma juvenil) o secundario en función de la presencia o ausencia de anomalías sistémicas u otras anomalías oculares (iridogoniodisgenesia, síndrome de Stickler, síndrome de Coats). El cuadro clínico es variable y se basa en la edad, la gravedad del glaucoma, la presencia de anomalías oculares y el desarrollo de anomalías secundarias asociadas a la PIO."},"it":{"name":"Glaucoma ereditario","definition":"Il glaucoma ereditario definisce un gruppo clinicamente eterogeneo di disturbi della vista, associati ad una predisposizione genetica e caratterizzati da un aumento della pressione intraoculare (IOP) e da alterazioni glaucomatose della testa del nervo ottico, che esitano in difetti del campo visivo, perdita della vista e cecità. Il glaucoma ereditario può essere distinto in primitivo (glaucoma congenito, glaucoma giovanile) o secondario, a seconda della presenza o assenza di anomalie sistemiche o di altri difetti oculari (iridogoniodisgenesia, sindrome di Stickler, sindrome di Coats; si vedano questi termini). Il quadro clinico è variabile e dipende dall'età, dalla gravità del glaucoma, dalla presenza di anomalie oculari e dallo sviluppo di anomalie secondarie IOP-correlate."},"nl":{"name":"Glaucoom van genetische oorsprong en met pediatrische aanvang","synonyms":["Erfelijk glaucoom","Hereditair glaucoom"],"definition":"Een klinisch diverse groep van zeldzame oogaandoeningen met genetische predispositie, gekarakteriseerd door verhoogde intraoculaire druk (IOP) en glaucomateuze veranderingen van optische schijf, wat leidt tot gezichtsvelddefecten, verlies van gezichtsvermogen, en blindheid. Het kan onderverdeeld worden als primair (congenitaal glaucoom, juveniel glaucoom) of secundair, naargelang de aanwezigheid of afwezigheid van systemische of andere oculaire anomalieën (iridogoniodysgenesie, syndroom van Stickler, syndroom van Coats). De klinische presentatie is variabel en gebaseerd op leeftijd, ernst van glaucoom, aanwezigheid van ooganomalieën, en ontwikkeling van secondaire IOP-gerelateerde afwijkingen."},"pt":{"name":"Glaucoma de origem genética de início pediátrico","synonyms":["Glaucoma hereditário"]},"pl":{"name":"Jaskara dziedziczna","synonyms":["Hereditary glaucoma"]},"cs":{"name":"Dědičný glaukom","synonyms":["Hereditary glaucoma"]},"uk":{"name":"Генетично обумовлена глаукома, що почалася в дитячому віці","synonyms":["Спадкова глаукома"],"definition":"A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities."},"zh":{"name":"遗传性青光眼","synonyms":["Hereditary glaucoma"]},"tr":{"name":"Kalıtsal glokom","synonyms":["Hereditary glaucoma"]}},"xrefs":[{"source":"MONDO","code":"18174","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580055","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711383","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2486","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98629,"name":"OBSOLETE: Rare glaucoma","status":"inactive"},{"type":"Referred to","orpha":98632,"name":"OBSOLETE: Glaucoma associated with neural crest cell migration anomaly","status":"inactive"},{"type":"Referred to","orpha":183604,"name":"OBSOLETE: Rare genetic glaucoma","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522578,"name":"Rare genetic disorder involving multiple structures of the eye","classifications":[156]}],"children":[{"orpha":156005,"name":"Primary early-onset glaucoma","type":"Clinical group"},{"orpha":522580,"name":"Secondary early-onset glaucoma of genetic origin","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}