{"orpha":98676,"name":"Autosomal recessive isolated optic atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive non-syndromic optic atrophy"],"definition":"A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98676/","orphanet_url":"https://www.orpha.net/en/disease/detail/98676","names":{"fr":{"name":"Atrophie optique isolée autosomique récessive","synonyms":["Atrophie optique non syndromique autosomique récessive"],"definition":"Atrophie optique héréditaire rare caractérisée par l'apparition précoce d'une dégénérescence du nerf optique, sans autres symptômes systémiques. Les manifestations cliniques comprennent une pâleur papillaire, une déficience visuelle sévère mais lentement progressive et, chez certains patients, un scotome paracentral, une photophobie et une dyschromatopsie."},"de":{"name":"Optikusatrophie, isolierte, autosomal-rezessive","synonyms":["Optikusatrophie, nicht-syndromale, autosomal-rezessive"],"definition":"Eine seltene Form der hereditären Optikusatrophie, die durch eine früh einsetzende bilaterale Degeneration des Sehnervs ohne andere systemische Merkmale gekennzeichnet ist. Zu den klinischen Manifestationen gehören Blässe der Sehnervenscheiben, schwere, aber langsam fortschreitende Sehstörungen und bei einigen Patienten auch parazentrale Skotome, Photophobie und Dyschromatopsie."},"es":{"name":"Atrofia óptica autosómica recesiva aislada","synonyms":["Atrofia óptica autosómica recesiva no sindrómica"],"definition":"Es una atrofia óptica hereditaria poco frecuente caracterizada por el inicio temprana de degeneración bilateral del nervio óptico sin otras características sistémicas. Las manifestaciones clínicas incluyen palidez del disco óptico, afectación visual grave de progresión lenta y, en algunos pacientes, escotoma paracentral, fotofobia y discromatopsia."},"it":{"name":"Atrofia ottica isolata, autosomica recessiva"},"nl":{"name":"Autosomaal recessieve geïsoleerde opticusatrofie","synonyms":["Autosomaal recessieve niet-syndromale opticusatrofie"],"definition":"Een zeldzame hereditaire opticusatrofie, gekenmerkt door vroege aanvang van bilaterale degeneratie van nervus opticus zonder andere systemische kenmerken. Klinische manifestaties zijn onder meer bleke papillen, ernstig maar traag progressief verlies van gezichtsvermogen, en bij sommige patiënten ook paracentraal scotoom, fotofobie, en dyschromatopsie."},"pt":{"name":"Atrofia óptica isolada autossómica recessiva"},"pl":{"name":"Autosomalny recesywny izolowany zanik nerwu wzrokowego","synonyms":["Autosomal recessive non-syndromic optic atrophy"]},"cs":{"name":"Autozomálně recesivní izolovaná atrofie optiku","synonyms":["Autosomal recessive non-syndromic optic atrophy"]},"uk":{"name":"Аутосомно-рецесивна ізольована атрофія зорового нерва","synonyms":["Аутосомно-рецесивна несиндромальна атрофія зорового нерва"],"definition":"A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia."},"zh":{"name":"常染色体隐性遗传孤立型视神经萎缩","synonyms":["常染色体隐性非综合征性视神经萎缩"],"definition":"该病是一种罕见的遗传性视神经萎缩，其特征是早发双侧视神经变性不伴其他全身特征。临床表现包括视盘苍白，严重但进展缓慢的视力损害，部分患者还会出现中心旁暗点，畏光和色觉障碍。"},"tr":{"name":"Otozomal resesif izole optik atrofi","synonyms":["Otozomal Çekinik sendromik olmayan optik atrofi"]}},"xrefs":[{"source":"OMIM","code":"258500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616289","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616732","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617302","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620583","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620629","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C40.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"247081496"},{"source":"MONDO","code":"0014753","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680331","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99012,"name":"OBSOLETE: Autosomal recessive optic atrophy, OPA6 type","status":"inactive"},{"type":"Referred to","orpha":441344,"name":"OBSOLETE: Autosomal recessive optic atrophy, OPA9 type","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98671,"name":"Hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ACO2","name":"aconitase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25351951[PMID]","hgnc":"118","ensembl":"ENSG00000100412","omim":"100850","loci":["22q13.2"]},{"symbol":"MCAT","name":"malonyl-CoA-acyl carrier protein transacylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31915829[PMID]","hgnc":"29622","ensembl":"ENSG00000100294","omim":"614479","loci":["22q13.2"]},{"symbol":"MECR","name":"mitochondrial trans-2-enoyl-CoA reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37734847[PMID]","hgnc":"19691","ensembl":"ENSG00000116353","omim":"608205","loci":["1p35.3"]},{"symbol":"RTN4IP1","name":"reticulon 4 interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26593267[PMID]","hgnc":"18647","ensembl":"ENSG00000130347","omim":"610502","loci":["6q21"]},{"symbol":"YME1L1","name":"YME1 like 1 ATPase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27495975[PMID]","hgnc":"12843","ensembl":"ENSG00000136758","omim":"607472","loci":["10p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"14508503[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14508503[PMID]"}],"phenotypes":null}