{"orpha":98964,"name":"Lattice corneal dystrophy type I","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Biber-Haab-Dimmer dystrophy","Classic lattice corneal dystrophy","LCD1","LCDI","Lattice corneal dystrophy type 1"],"definition":"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98964/","orphanet_url":"https://www.orpha.net/en/disease/detail/98964","names":{"fr":{"name":"Dystrophie cornéenne grillagée type I","synonyms":["Dystrophie cornéenne grillagée classique","Dystrophie cornéenne grillagée type 1","Dystrophie de Biber-Haab-Dimmer","LCD1","LCDI"],"definition":"La dystrophie cornéenne grillagée type I (LCDI) est une forme fréquente de dystrophie cornéenne stromale caractérisée par un réseau d'opacités filamenteuses délicatement entremêlées dans la cornée, avec une détérioration progressive de la vision sans manifestations systémiques."},"de":{"name":"Hornhautdystrophie, gittrige, Typ 1","synonyms":["Biber-Haab-Dimmer-Dystrophie","Klassische gittrige Hornhautdystrophie","LCD Typ 1","LCD1"],"definition":"Die gittrige Hornhautdystrophie Typ I (LCDI) ist eine häufige Form der Stroma-Hornhautdystrophie (s. dort) und gekennzeichnet durch ein Netzwerk von feinen, ineinander verschränkten und verzweigten filamentösen Trübungen in der Kornea, mit zunehmender Beeinträchtigung des Visus und ohne systemische Manifestationen."},"es":{"name":"Distrofia corneal reticular tipo I","synonyms":["Distrofia corneal reticular clásica","Distrofia corneal reticular tipo 1","Distrofia de Biber-Haab-Dimmer","LCD1","LCDI"],"definition":"La distrofia corneal reticular tipo I (LCDI) es una forma frecuente de distrofia corneal estromal (consulte este término), caracterizada por una red de opacidades filamentosas, ramificadas, interdigitalizadas y delicadas en la córnea, con deterioro visual progresivo y sin manifestaciones sistémicas."},"it":{"name":"Distrofia corneale reticolare, tipo I","synonyms":["Distrofia corneale reticolare classica","Distrofia corneale reticolare, tipo 1","Distrofia di Biber-Haab-Dimmer","LCD1","LCDI"],"definition":"La distrofia corneale reticolare tipo I (LCDI) è una forma frequente di distrofia corneale stromale (si veda questo termine), caratterizzata da un reticolo formato da fini opacità filamentose ramificate interconnesse all'interno della cornea, associato a deficit visivo progressivo e all'assenza di sintomi sistemici."},"nl":{"name":"Lattice corneadystrofie type I","synonyms":["Dystrofie van Biber-Haab-Dimmer","Klassieke lattice corneadystrofie","LCD1","LCDI","Lattice corneadystrofie type 1"],"definition":"Lattice corneadystrofie type I (LCDI) is een vaak voorkomende vorm van stromale corneadystrofie (zie deze term), gekenmerkt door een netwerk van fijne, vervlochten, vertakkende, filamenteuze opaciteiten in de cornea met progressieve visuele achteruitgang en zonder systemische manifestaties."},"pt":{"name":"Distrofia corneana, reticular, tipo I"},"pl":{"name":"Siateczkowata dystrofia rogówki typu I","synonyms":["Dystrofia Bibera, Haaba i Dimmera","Klasyczna siateczkowata dystrofia rogówki typu 1","LCD1","LCDI","Siateczkowata dystrofia rogówki typu 1"]},"cs":{"name":"Mřížková dystrofie rohovky, typ I","synonyms":["Biberova-Haabova-Dimmerova dystrofie","LCD1","LCDI","Klasická mřížková dystrofie rohovky","Mřížková dystrofie rohovky, typ 1","Biber-Haab-Dimmerova dystrofie"]},"uk":{"name":"Решітчаста дистрофія рогівки, тип I","synonyms":["Дистрофія Бібера-Хааба-Діммера","Класична решітчаста дистрофія рогівки","Решітчаста дистрофія рогівки, тип 1","LCD1","LCDI"],"definition":"Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations."},"zh":{"name":"格子状角膜营养不良I型","synonyms":["典型晶格状角膜营养不良"],"definition":"I型晶格状角膜营养不良(LCDI)是一种常见的间质性角膜营养不良(见此术语)，其特征是角膜内交错分支丝状混浊网络，进行性视力损害，无全身性表现。"},"tr":{"name":"Kafes korneal distrofi tip I","synonyms":["LCD1","LCDI","Biber-Haab-Dimmer distrofisi","Kafes korneal distrofi tip 1","Klasik latis kornea distrofisi"]}},"xrefs":[{"source":"OMIM","code":"122200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"608471","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"915460021"},{"source":"MONDO","code":"0007380","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537881","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1690006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9678","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98626,"name":"Stromal corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"TGFBI","name":"transforming growth factor beta induced","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12770961[PMID]","hgnc":"11771","ensembl":"ENSG00000120708","omim":"601692","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-04","source":"27402970[PMID]_20806046[PMID]_18470323[PMID]","terms":[{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011493","label":"Central opacification of the cornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000559","label":"Corneal scarring","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001149","label":"Lattice corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012040","label":"Corneal stromal edema","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:0000495","label":"Recurrent corneal erosions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025337","label":"Red eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008039","label":"Subepithelial corneal opacities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008511","label":"Central posterior corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012155","label":"Decreased corneal sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Occasional (29-5%)","criteria":null}]}}