{"orpha":171673,"name":"Limbal stem cell deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171673/","orphanet_url":"https://www.orpha.net/en/disease/detail/171673","names":{"fr":{"name":"Déficit en cellules souches limbiques","definition":"Maladie cornéenne rare caractérisée par un dysfonctionnement et/ou une quantité insuffisante de cellules souches limbiques cornéennes, à l'origine d'une altération de l'autorenouvellement de l'épithélium cornéen et provoquant une dégradation de l'épithélium, une néovascularisation et une conjonctivalisation de la cornée, une inflammation chronique, des défauts épithéliaux persistants et des cicatrices. Les patients manifestent généralement une rougeur oculaire, une baisse de l'acuité visuelle, une photophobie, une sensation de corps étranger, un larmoiement et une douleur. La maladie peut être génétique, idiopathique ou acquise (dans le contexte d'une inflammation, d'une infection, d'un traumatisme ou de tumeurs de la surface oculaire)."},"de":{"name":"Limbusstammzellinsuffizienz","definition":"Eine seltene Hornhauterkrankung, die durch eine Funktionsstörung und/oder eine unzureichende Menge an limbalen Stammzellen der Hornhaut gekennzeichnet ist, was zu einer Beeinträchtigung der Selbsterneuerung des Hornhautepithels führt und einen Zusammenbruch des Epithels, eine Bindehautentzündung und Neovaskularisierung der Hornhaut, chronische Entzündungen, anhaltende Epitheldefekte und Narbenbildung zur Folge hat. Die Patienten leiden in der Regel unter Augenrötung, vermindertem Sehvermögen, Photophobie, Fremdkörpergefühl, Tränenfluss und Schmerzen. Die Erkrankung kann genetisch, idiopathisch oder erworben sein (im Zusammenhang mit Entzündungen, Infektionen, Traumata oder Tumoren der Augenoberfläche)."},"es":{"name":"Deficiencia de células madre limbares","synonyms":["Deficiencia de las células progenitoras del limbo esclerocorneal","Insuficiencia del limbo esclerocorneal"],"definition":"Es un trastorno corneal poco frecuente caracterizado por la disfunción y/o deficiencia de células madre del limbo corneal, alterando la auto-renovación del epitelio corneal y resultando en ruptura epitelial, conjuntivalización y neovascularización corneal, inflamación crónica, defectos epiteliales persistentes y lesiones cicatriciales. Los pacientes se suelen presentar con enrojecimiento ocular, disminución de la visión, fotofobia, sensación de cuerpo extraño, lagrimeo y dolor. La afección puede ser genética, idiopática o adquirida (en el contexto de una inflamación, una infección, un traumatismo o de tumores de la superficie ocular)."},"it":{"name":"Deficit delle cellule staminali limbiche","definition":"Si tratta di una malattia rara della cornea, caratterizzata da disfunzione e/o riduzione delle cellule staminali limbiche della cornea, associata alla compromissione dell'auto-rinnovamento dell'epitelio della cornea, con conseguente degradazione dell'epitelio, congiuntivalizzazione e neovascolarizzazione della cornea, infiammazione cronica, difetti persistenti dell'epitelio e formazione di cicatrici. I pazienti di solito presentano arrossamento degli occhi, riduzione della vista, fotofobia, sensazione di corpo estraneo, lacrimazione e dolore. La malattia può essere genetica, idiopatica o acquisita (nel quadro di un'infiammazione, un'infezione, un trauma o di tumori della superficie oculare)."},"nl":{"name":"Limbale stamceldeficiëntie","definition":"Een zeldzame aandoening van cornea, gekarakteriseerd door disfunctie en/of onvoldoende hoeveelheid van corneale limbale stamcellen, wat leidt tot verstoring van zelfvernieuwing van epitheel van cornea en resulteert in beschadiging van epitheel, conjunctivalisatie en neovascularisatie van cornea, chronische inflammatie, persisterende defecten van epitheel, en littekenvorming. Patiënten vertonen meestal roodheid van ook, verminderd gezichtsvermogen, fotofobie, gevoel van corpus alienum, tranend oog, en pijn. De aandoening kan genetisch, idiopathisch, of verworven (in de context van inflammatie, infectie, trauma, of tumor van oogoppervlak) zijn."},"pt":{"name":"Lesões da córnea, com deficiência associada a células estaminais da córnea (limbo), por queimaduras oculares"},"pl":{"name":"Niedobór komórek macierzystch rąbka rogówki"},"cs":{"name":"Deficit limbálních kmenových buněk"},"uk":{"name":"Дефіцит лімбальних стовбурових клітин","definition":"A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors)."},"zh":{"name":"角膜缘干细胞缺乏"},"tr":{"name":"Limbal kök hücre eksikliği"}},"xrefs":[{"source":"ICD-10","code":"H18.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0025667","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000092423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1561989","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072138","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519282,"name":"Rare corneal disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-18","source":"29109898[PMID]_29113917[PMID]_27856177[PMID]","terms":[{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008000","label":"Decreased corneal reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011496","label":"Corneal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000559","label":"Corneal scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011494","label":"Generalized opacification of the cornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007727","label":"Opacification of the corneal epithelium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500008","label":"Cornea verticillata","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Very rare (<4-1%)","criteria":null}]}}