{"orpha":137672,"name":"Pellucid 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, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137672/","orphanet_url":"https://www.orpha.net/en/disease/detail/137672","names":{"fr":{"name":"Dégénérescence marginale pellucide","definition":"Maladie rare du segment antérieur de l'oeil caractérisée par un amincissement clair, bilatéral, non ulcérant, non inflammatoire, lentement progressif de la partie inférieure de la cornée périphérique (s'étendant de la position 4 heures à la position 8 heures), avec une zone de protrusion cornéenne au-dessus du point d'amincissement maximal, entraînant un astigmatisme inverse et une diminution de l'acuité visuell. L'épaisseur de la cornée centrale est normale."},"de":{"name":"Hornhautdegeneration, marginale pelluzide","definition":"Seltene Erkrankung des vorderen Augenabschnittes, die durch eine langsam fortschreitende, beidseitige, nicht entzündliche, nicht ulzerierende, deutliche Ausdünnung des unteren peripheren Hornhautabschnittes (von der 4-Uhr- bis zur 8-Uhr-Position) mit einer Hornhautvorwölbung oberhalb des Punktes der maximalen Ausdünnung gekennzeichnet ist, was zu einem irregulären Astigmatismus mit verminderter Sehschärfe führt. Die zentrale Hornhaut ist normal dick."},"es":{"name":"Degeneración marginal pelúcida","definition":"Es un trastorno poco frecuente del segmento anterior del ojo caracterizado por un marcado adelgazamiento de la parte inferior de la córnea periférica (que se extiende desde la posición de las 4 en punto a las 8 en punto), lentamente progresivo, bilateral, no ulcerativo y no inflamatorio, con un área de protuberancia corneal por encima del punto de adelgazamiento máximo, lo que resulta en astigmatismo en contra de la regla con disminución de la agudeza visual. La córnea central presenta un grosor normal."},"it":{"name":"Degenerazione marginale pellucida","definition":"Si tratta di una malattia rara del segmento anteriore dell'occhio, caratterizzata da un evidente assottigliamento bilaterale, non ulcerativo, non infiammatorio e a progressione lenta della porzione inferiore della cornea periferica (che si estende dalla posizione delle ore 4 alle ore 8), con un'area di protrusione della cornea localizzata sopra il punto del massimo assottigliamento, associata ad astigmatismo atipico e alla riduzione dell'acuità visiva. La porzione centrale della cornea ha uno spessore normale."},"nl":{"name":"Heldere marginale degeneratie","definition":"Een zeldzame aandoening van voorste oogsegment, gekarakteriseerd door traag progressieve, bilaterale, niet-ulceratieve, niet-inflammatoire, duidelijke verdunning van onderste deel van perifeer hoornvlies (gaande van de 4-uurpositie tot de 8-uurpositie), met een gebied van protrusie van cornea boven het punt van maximale verdunning, wat resulteert in 'tegen de regel'-astigmatisme met verminderde gezichtsscherpte. Centraal hoornvlies heeft een normale dikte."},"pt":{"name":"Degeneração marginal pelúcida"},"pl":{"name":"Zwyrodnienie brzeżne przezroczyste"},"cs":{"name":"Pelucidní marginální degenerace"},"uk":{"name":"Пелюцідна крайова дегенерація (рогівки)","definition":"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness."},"zh":{"name":"边缘角膜透明变性"},"tr":{"name":"Pellusid marjinal dejenerasyon"}},"xrefs":[{"source":"ICD-10","code":"H18.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A78.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1662005062"},{"source":"MONDO","code":"0015298","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339288","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11895","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":[],"onset":[],"prevalence":[],"phenotypes":null}