{"orpha":65,"name":"Leber congenital amaurosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Amaurosis congenita of Leber"],"definition":"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65/","orphanet_url":"https://www.orpha.net/en/disease/detail/65","names":{"fr":{"name":"Amaurose congénitale de Leber","definition":"Une dystrophie rétinienne caractérisée par une cécité et des réponses en dessous du seuil suite à une stimulation électrophysiologique (électrorétinogramme (ERG) de Ganzfeld), associées à une déficience visuelle sévère au cours de la première année de vie."},"de":{"name":"Amaurosis congenita Leber","synonyms":["Lebersche kongenitale Amaurose"],"definition":"Die Amaurosis congenita Leber (LCA) ist eine Netzhautdystrophie, die durch Blindheit und grenzwertunterschreitende Reaktionen auf elektrophysiologische Stimulationen (Elektroretinogramm, ERG) gekennzeichnet ist und mit einer schweren Sehbehinderung innerhalb des ersten Lebensjahres einhergeht."},"es":{"name":"Amaurosis congénita de Leber","definition":"La amaurosis congénita de Leber (ACL) es una distrofia retiniana caracterizada por ceguera y una respuesta a la estimulación electrofisiológica (electrorretinograma de Ganzfeld (ERG)) por debajo del umbral, asociado con discapacidad visual grave en el primer año de vida."},"it":{"name":"Amaurosi congenita di Leber","definition":"L'amaurosi congenita di Leber (LCA) è una distrofia retinica caratterizzata da cecità e risposte inferiori alla soglia alla stimolazione elettrofisiologica (elettroretinogramma con Ganzfeld - ERG), associate ad una grave compromissione della vista nel primo anno di vita."},"nl":{"name":"Congenitale amaurose van Leber","synonyms":["Amaurosis congenita van Leber"],"definition":"Leber congenitale amaurose (LCA) is een retinale dystrofie die wordt gedefinieerd door blindheid en responsen op elektrofysiologische stimulatie (Ganzfeld-elektroretinogram (ERG)) onder de drempelwaarde, geassocieerd met ernstige visuele beperkingen binnen het eerste levensjaar."},"pt":{"name":"Amaurose congénita Leber","definition":"A amaurose congénita Leber (ACL) é uma distrofia retiniana definida por cegueira e respostas à estimulação eletrofisiológica (eletrorretinograma de campo total (ERG)) abaixo do limiar, associada a deficiência visual grave no primeiro ano de vida."},"pl":{"name":"Wrodzona ślepota Lebera","synonyms":["Wrodzone zaniewidzenie Lebera"]},"cs":{"name":"Leberova vrozená amauróza","synonyms":["Amaurosis congenita of Leber"]},"uk":{"name":"Вроджений амавроз Лебера","synonyms":["Вроджений амавроз Лебера"],"definition":"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life."},"zh":{"name":"Leber先天性黑矇","synonyms":["Leber先天性黒矇"]},"tr":{"name":"Leber doğumsal amorozu","synonyms":["Amaurosis, Leber'in konjeniti"]}},"xrefs":[{"source":"OMIM","code":"179900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"204000","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"204100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604232","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604393","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604537","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608133","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608553","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610125","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610612","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611755","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612712","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613341","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613826","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613829","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613835","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613837","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613843","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614186","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615360","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617879","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618513","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"650490256"},{"source":"MONDO","code":"0018998","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D057130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339527","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"634","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070667","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":156174,"name":"Retinal ciliopathy due to mutation in the RPGRIP gene","classifications":[156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":98622,"name":"Syndromic hyperopia","classifications":[156,189]}],"children":[],"genes":[{"symbol":"GUCY2D","name":"guanylate cyclase 2D, retinal","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25685757[PMID]_20301475[PMID]","hgnc":"4689","ensembl":"ENSG00000132518","omim":"600179","loci":["17p13.1"]},{"symbol":"IQCB1","name":"IQ motif 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000","value":2.5,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]_20301475[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-09","source":"30285347[PMID]","terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012795","label":"Abnormality of the optic disc","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030466","label":"Abnormal full-field electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Frequent 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