{"orpha":519410,"name":"Terrien marginal degeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519410/","orphanet_url":"https://www.orpha.net/en/disease/detail/519410","names":{"fr":{"name":"Dégénérescence marginale de Terrien","definition":"Maladie rare du segment antérieur de l'oeil caractérisée par une dégénérescence lentement progressive, bilatérale, asymétrique et généralement non-inflammatoire de la cornée périphérique, entraînant un amincissement du stroma, une vascularisation, un dépôt de lipides et un astigmatisme inverse et une diminution de l'acuité visuelle. La dégénérescence touche généralement d'abord la partie supérieure de la cornée et progresse de manière circonférentielle vers une ectasie de la cornée périphérique. L'opacification de la cornée centrale peut survenir à un stade très avancé. Dans de rares cas, on observe des complications par rupture."},"de":{"name":"Marginale Degeneration Terrien","synonyms":["Terrien's marginale Hornhautdegeneration"],"definition":"Eine seltene Erkrankung des vorderen Augenabschnitts, die durch eine langsam fortschreitende, bilaterale, asymmetrische, in der Regel nicht entzündliche Degeneration der peripheren Hornhaut gekennzeichnet ist und zu einer Ausdünnung des Stromas, Vaskularisierung, Lipidablagerungen und einem regelwidrigen Astigmatismus mit verminderter Sehschärfe führt. Die Degeneration betrifft typischerweise zuerst den oberen Aspekt der Hornhaut und breitet sich dann in Umfangsrichtung aus, was zu einer zirkulären Ektasie der peripheren Hornhaut führt. In einem sehr fortgeschrittenen Stadium kann es zu einer Eintrübung der zentralen Hornhaut kommen. In seltenen Fällen wird die Erkrankung durch eine Perforation kompliziert."},"es":{"name":"Degeneración marginal de Terrien","definition":"Es un trastorno poco frecuente del segmento anterior del ojo caracterizado por una degeneración lentamente progresiva, bilateral, asimétrica, generalmente no inflamatoria de la córnea periférica, que resulta en adelgazamiento del estroma, vascularización, deposición de lípidos y astigmatismo contra la regla con disminución de la agudeza visual. La degeneración suele afectar en primer lugar a la cara superior de la córnea extendiéndose circunferencialmente, lo que lleva a una ectasia circunferencial de la córnea periférica. La opacificación de la córnea central puede ocurrir en una etapa muy avanzada. En casos excepcionales, la afección se complica por una perforación."},"it":{"name":"Degenerazione marginale di Terrien","definition":"Si tratta di una malattia rara del segmento anteriore dell'occhio, caratterizzata da una degenerazione bilaterale asimmetrica, a progressione lenta, di solito non infiammatoria, della porzione periferica della cornea, con conseguente assottigliamento stromale, vascolarizzazione, accumulo di lipidi e astigmatismo atipico con riduzione dell'acuità visiva. Di solito la degenerazione interessa dapprima la porzione superiore della cornea, per poi estendersi alla periferia, causando l'ectasia della porzione periferica della cornea. Negli stadi più avanzati della malattia può manifestarsi una opacizzazione della cornea centrale. In rari casi, la malattia può esitare nella perforazione."},"nl":{"name":"Marginale degeneratie van Terrien","definition":"Een zeldzame aandoening van voorste oogsegment, gekarakteriseerd door traag progressieve, bilaterale, asymmetrische, meestal niet-inflammatoire degeneratie van perifeer hoornvlies, wat resulteert in stromale verdunning, vascularisatie, afzetting van lipide, en astigmatisme tegen de regel met verminderde visus. Degeneratie treft doorgaans eerst superieur aspect van cornea en breidt cirkelvormig uit, wat leidt tot circumferentiële ectasie van perifeer hoornvlies. Vertroebelingen van centraal hoornvlies kan optreden in een zeer ver gevorderd stadium. In zeldzame gevallen wordt de aandoening gecompliceerd door perforatie."},"pt":{"name":"Degeneração marginal Terrien"},"pl":{"name":"Zwyrodnienie brzeżneTerriena"},"cs":{"name":"Terrienova marginální degenerace"},"uk":{"name":"Террієнова маргінальна дегенерація","definition":"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation."},"zh":{"name":"特里昂边缘变性"},"tr":{"name":"Terrien marjinal dejenerasyonu"}},"xrefs":[{"source":"ICD-10","code":"H18.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A78.4","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0033818","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271283","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043286","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}