{"orpha":137596,"name":"Neurotrophic keratopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neurotrophic keratitis"],"definition":"Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137596/","orphanet_url":"https://www.orpha.net/en/disease/detail/137596","names":{"fr":{"name":"Kératopathie neurotrophique","synonyms":["Kératite neurotrophique"],"definition":"Maladie dégénérative rare de la cornée caractérisée par une réduction ou une perte de sensibilité cornéenne qui peut être asymptomatique ou se manifester par des yeux rouges et, au cours des premiers stades de la maladie, par une légère diminution de l'acuité visuelle. La maladie entraîne la perte de la vue."},"de":{"name":"Keratopathie, neurotrophe","synonyms":["Neurotrophe Keratitis"],"definition":"Die neurotrophe Keratopathie ist eine seltene degenerative Erkrankung der Hornhaut, die durch eine Verringerung oder einen Verlust der Hornhautsensibilität gekennzeichnet ist, die asymptomatisch sein kann oder mit roten Augen und, in den frühen Stadien der Erkrankung, einer geringfügigen Abnahme der Sehschärfe einhergeht. Sie führt langfristig zum Verlust des Sehvermögens."},"es":{"name":"Queratopatía neurotrófica","synonyms":["Queratitis neurotrófica"],"definition":"La queratopatía neurotrófica es una enfermedad degenerativa de la córnea poco frecuente caracterizada por una reducción o pérdida de la sensibilidad corneal que puede ser asintomática o presentarse con ojos enrojecidos y, durante las etapas tempranas de la enfermedad, una leve disminución de la agudeza visual. Con el tiempo conduce a una pérdida de visión."},"it":{"name":"Cheratopatia neurotrofica","definition":"La cheratopatia neurotrofica è una malattia degenerativa rara della cornea, caratterizzata dalla riduzione o dalla perdita della sensibilità della cornea; può essere asintomatica oppure esordire con l'arrossamento degli occhi e, nelle prime fasi della malattia, una lieve riduzione dell'acuità visiva. La malattia esita nella perdita della vista."},"nl":{"name":"Neurotrofe keratopathie","synonyms":["Neurotrofe keratitis"],"definition":"Neurotrofe keratopathie is een zeldzame degeneratieve aandoening van de cornea (hoornvlies) en wordt gekarakteriseerd door een verlies van sensitiviteit van het hoornvlies dat asymptomatisch kan zijn of zich kan uiten met rode ogen en, in de vroege stadia van de ziekte, een kleine vermindering van de gezichtsscherpte. Uiteindelijk leidt de conditie tot functieverlies van het zicht."},"pt":{"name":"Queratopatia neurotrófica"},"pl":{"name":"Keratopatia neurotropowa","synonyms":["Neurotropowe zapalenie rogówki"]},"cs":{"name":"Neurotrofická keratopatie","synonyms":["Neurotrofická keratitida"]},"uk":{"name":"Нейротрофічна кератопатія","synonyms":["Нейротрофічний кератит"],"definition":"Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision."},"zh":{"name":"神经营养性角膜病变","synonyms":["神经营养性角膜炎"],"definition":"神经营养性角膜病是一种罕见的角膜退行性疾病，其特征是角膜敏感性降低或丧失，可无症状或表现为红眼，在疾病的早期，视力轻微下降。它最终会导致失明。"},"tr":{"name":"Nörotrofik keratopati","synonyms":["Nörotrofik keratit"]}},"xrefs":[{"source":"ICD-10","code":"H16.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"1F00.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1257534118"},{"source":"MONDO","code":"0015290","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339296","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069732","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519278,"name":"Infective keratitis","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":4.2,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24672223[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-28","source":"28613758[PMID]_14631406[PMID]_29988739[PMID]_24672223[PMID]_29698813[PMID]","terms":[{"hpo":"HP:0010824","label":"Abnormal fifth cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012155","label":"Decreased corneal sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012122","label":"Anterior uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000559","label":"Corneal scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012040","label":"Corneal stromal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012533","label":"Allodynia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Very rare (<4-1%)","criteria":null}]}}