{"orpha":519406,"name":"Thygeson superficial punctate keratitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Thygeson superficial punctate keratopathy"],"definition":"A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, and blurred vision. The condition is typically bilateral, takes a relapsing-remitting course, and is mostly self-limiting after a few years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519406/","orphanet_url":"https://www.orpha.net/en/disease/detail/519406","names":{"fr":{"name":"Kératite ponctuée superficielle de Thygeson","synonyms":["Kératopathie ponctuée superficielle de Thygeson"],"definition":"Maladie rare du segment antérieur de l'oeil, caractérisée par une kératite épithéliale chronique récurrente se manifestant par des groupements de petites opacités intra-épithéliales ovoïdes, légèrement surélevées, de couleur gris-blanc, généralement situées dans la partie centrale de la cornée. Les patients présentent une photophobie, un larmoiement, une sensation de corps étranger et une vision floue. L'affection est généralement bilatérale, évolue de façon récurrente-rémittente et se résorbe généralement de manière spontanée au bout de quelques années."},"de":{"name":"Keratitis superficialis punctata Thygeson","synonyms":["Thygeson-Keratitis","Thygesons oberflächliche punktierte Keratopathie"],"definition":"Eine seltene Erkrankung des vorderen Augenabschnitts, die durch eine chronisch rezidivierende epitheliale Keratitis gekennzeichnet ist, die sich in Form von kleinen, leicht erhabenen, eiförmigen, grau-weißen intraepithelialen Trübungen manifestiert, die sich in der Regel in der zentralen Hornhaut befinden. Die Patienten leiden unter Photophobie, Tränenfluss, Fremdkörpergefühl und verschwommenem Sehen. Die Erkrankung ist in der Regel beidseitig, verläuft schubweise und ist nach einigen Jahren meist selbstlimitierend."},"es":{"name":"Queratitis punteada superficial de Thygeson","synonyms":["Queratopatía punteada superficial de Thygeson"],"definition":"Es un trastorno poco frecuente del segmento anterior del ojo caracterizado por queratitis epitelial recurrente crónica que se manifiesta con múltiples opacidades intraepiteliales pequeñas, ligeramente elevadas, ovoides, de color blanquecino-grisáceo y generalmente localizadas en la córnea central. Los pacientes presentan fotofobia, lagrimeo, sensación de cuerpo extraño y visión borrosa. La entidad es típicamente bilateral, sigue un curso recurrente-remitente y, suele autolimitarse después de unos años."},"it":{"name":"Cheratopatia puntata superficiale di Thygeson","definition":"Si tratta di una malattia rara del segmento anteriore dell'occhio, caratterizzata da cheratite epiteliale cronica ricorrente, che si manifesta con raggruppamenti di piccole opacità intraepiteliali ovoidali, leggermente rialzate, di colore bianco-grigiastro, di solito localizzate nella porzione centrale della cornea. I pazienti presentano fotofobia, lacrimazione, sensazione di corpo estraneo e offuscamento della vista. Di solito la malattia è bilaterale, ha un decorso recidivante-remittente ed è per lo più autolimitante dopo alcuni anni."},"nl":{"name":"Oppervlakkige keratitis punctata van Thygeson","synonyms":["Oppervlakkige puntvormige keratopathie van Thygeson"],"definition":"Een zeldzame aandoening van voorste oogsegment, gekarakteriseerd door chronische recidiverende epitheliale keratitis die zich manifesteert met groepen van kleine, licht verheven, ovoïde, grijs-witte intra-epitheliale opaciteiten, meestal gesitueerd in centraal hoornvlies. Patiënten presenteren zich met fotofobie, tranende ogen, gevoel van corpus alienum, en troebel zicht. De aandoening is doorgaans bilateraal, vertoont recidiverend-herstellend verloop, en is meestal zelfbeperkend na een aantal jaren."},"pt":{"name":"Queratite punctiforme superfical Thygeson","synonyms":["Queratite punctata superfical Thygeson"]},"pl":{"name":"Powierzchowna, punktowa keratopatia Thygesona","synonyms":["Thygeson superficial punctate keratopathy"]},"cs":{"name":"Thygesonova keratopatie","synonyms":["Thygeson superficial punctate keratopathy"]},"uk":{"name":"Поверхневий точковий кератит Тигесон","synonyms":["Поверхнева пунктатна кератопатія Тигесона"],"definition":"A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, and blurred vision. The condition is typically bilateral, takes a relapsing-remitting course, and is mostly self-limiting after a few years."},"zh":{"name":"蒂格森浅表性点状角膜炎","synonyms":["蒂格森浅表性点状角膜病变"]},"tr":{"name":"Thygeson yüzeysel punktat keratit","synonyms":["Thygeson yüzeysel punktata keratopati"]}},"xrefs":[{"source":"ICD-10","code":"H16.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A78.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"640482916"},{"source":"MONDO","code":"0033816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551636","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519290,"name":"Rare inflammatory/autoimmune corneal disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}