{"orpha":70476,"name":"Vernal keratoconjunctivitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spring catarrh"],"definition":"A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70476/","orphanet_url":"https://www.orpha.net/en/disease/detail/70476","names":{"fr":{"name":"Kératoconjonctivite vernale","synonyms":["Kératoconjonctivite printanière"],"definition":"Maladie rare du segment antérieur de l'oeil, caractérisée par une réaction allergique sévère et récurrente affectant la cornée et la conjonctive. Elle se manifeste par des yeux rouges, des démangeaisons oculaires, une photophobie, une sensation de corps étranger, un écoulement muqueux, un blépharospasme et une vision trouble. Les symptômes sont généralement bilatéraux, mais peuvent être asymétriques. Les signes caractéristiques sont une injection conjonctivale, des papilles géantes principalement sur la conjonctive tarsale supérieure (aspect de pavé), des infiltrats gélatineux limbiques (points de Horner-Trantas) et des signes variables d'atteinte cornéenne. La maladie est plus fréquente sous les climats chauds et touche le plus souvent les jeunes garçons."},"de":{"name":"Keratokonjunctivitis vernalis","synonyms":["Frühjahrskonjunktivitis","Frühlingskatarrh","VKC"],"definition":"Eine seltene Erkrankung des vorderen Augenabschnitts, die durch eine schwere wiederkehrende allergische Reaktion gekennzeichnet ist, die die Hornhaut und die Bindehaut betrifft. Sie äußert sich durch rote Augen, Augenjucken, Photophobie, Fremdkörpergefühl, schleimigen Ausfluss, Blepharospasmus und verschwommenes Sehen. Die Symptome sind in der Regel beidseitig, können aber auch asymmetrisch sein. Zu den charakteristischen Anzeichen gehören Injektionen in die Bindehaut, riesige Papillen vor allem an der oberen tarsalen Bindehaut (Kopfsteinpflaster), gelatinöse Infiltrate an der Limbuswand (Horner-Trantas-Punkte) und variable Hornhautzeichen. Die Erkrankung tritt häufiger in heißen Klimazonen auf und betrifft am häufigsten junge Knaben."},"es":{"name":"Queratoconjuntivitis primaveral","synonyms":["Catarro primaveral"],"definition":"Es un trastorno poco frecuente del segmento anterior ocular caracterizado por una reacción alérgica recurrente grave que afecta a la córnea y a la conjuntiva. Se presenta con enrojecimiento de los ojos, prurito ocular, fotofobia, sensación de cuerpo extraño, secreción mucosa, blefaroespasmo y visión borrosa. Los síntomas son típicamente bilaterales aunque pueden ser asimétricos. Otros signos característicos incluyen inyección conjuntival, papilas gigantes, principalmente en la conjuntiva tarsal superior (aspecto de empedrado), infiltrados gelatinosos limbares (puntos de Horner-Trantas) y signos corneales variables. El trastorno es más prevalente en los climas cálidos y afecta con mayor frecuencia a niños varones en la primera infancia."},"it":{"name":"Cheratocongiuntivite primaverile","synonyms":["Cheratocongiuntivite Vernal"],"definition":"Si tratta di una malattia rara del segmento anteriore dell'occhio, caratterizzata da una reazione allergica grave e ricorrente che interessa la cornea e la congiuntiva. Esordisce con arrossamento e prurito oculare, fotofobia, sensazione di corpo estraneo, perdite di muco, blefarospasmo e annebbiamento della vista. Di solito i sintomi sono bilaterali, ma possono essere asimmetrici. I segni clinici caratteristici comprendono l'iniezione congiuntivale, le papille giganti soprattutto sulla congiuntiva tarsale superiore (aspetto acciottolato), gli infiltrati gelatinosi nel limbus (punti di Horner-Trantas) e segni variabili a livello della cornea. La malattia ha una maggiore prevalenza nei climi caldi e colpisce per lo più i maschi giovani."},"nl":{"name":"Vernale keratoconjunctivitis","synonyms":["Lente-catarre"],"definition":"Een zeldzame aandoening van voorste oogsegment, gekarakteriseerd door een ernstige, terugkerende allergische reactie die cornea en conjunctiva aantast. Het presenteert zich met rode ogen, jeuk aan het oog, fotofobie, gevoel van vreemd lichaam, afscheiding van mucus, blefarospasme, en vertroebeling van zicht. De symptomen zijn doorgaans bilateraal, maar kunnen asymmetrisch zijn. Typische tekenen zijn onder meer hyperemie van conjunctiva, grote papillae die vooral voorkomen op bindvlies van bovenste ooglid (straatkei-uiterlijk), limbale gelatineuze infiltraten (stipjes van Horner-Trantas), en variabele verschijnselen aan hoornvlies. De aandoening komt meer voor in warme klimaten en treft doorgaans jonge jongens."},"pt":{"name":"Queratoconjuntivite primaveril","synonyms":["Catarro primaveril"]},"pl":{"name":"Wiosenne zapalenie rogówki i spojówki","synonyms":["Spring catarrh"]},"cs":{"name":"Vernální keratokonjunktivitida","synonyms":["Jarní katar","Vernální katar, VKC"]},"uk":{"name":"Весняний кератоконюнктивіт","synonyms":["Весняний катар"],"definition":"A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys."},"zh":{"name":"春季角结膜炎","synonyms":["春季结膜炎"]},"tr":{"name":"Vernal keratokonjunktivit","synonyms":["Bahar nezlesi"]}},"xrefs":[{"source":"ICD-10","code":"H16.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A60.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"670300288"},{"source":"MONDO","code":"0019085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7854","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081000","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519280,"name":"Rare conjunctivitis","classifications":[189]},{"orpha":98623,"name":"Syndromic keratoconus","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":151.0,"area":"Italy","status":"Validated","source":"18356259[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.5,"area":"Finland","status":"Validated","source":"18356259[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":49.5,"area":"Sweden","status":"Validated","source":"18356259[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":26.0,"area":"Netherlands","status":"Validated","source":"18356259[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"France","status":"Validated","source":"18356259[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Norway","status":"Validated","source":"18356259[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":32.0,"area":"Europe","status":"Not yet validated","source":"18356259[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-20","source":"10857837[PMID]_35015458[PMID]_30550738[PMID]","terms":[{"hpo":"HP:0000502","label":"Abnormal conjunctiva morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000591","label":"Abnormal sclera morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007879","label":"Allergic conjunctivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011496","label":"Corneal neovascularization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001096","label":"Keratoconjunctivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011859","label":"Punctate keratitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025337","label":"Red eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034804","label":"Corneal foreign body sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025350","label":"Giant conjunctival papillae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033841","label":"Ocular pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032107","label":"Limbal stem cell deficiency","frequency":"Very rare (<4-1%)","criteria":null}]}}