{"orpha":364055,"name":"Severe early-childhood-onset retinal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EOSRD","Early-onset severe retinal dystrophy","SECORD"],"definition":"Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-364055/","orphanet_url":"https://www.orpha.net/en/disease/detail/364055","names":{"fr":{"name":"Dystrophie rétinienne sévère de l'enfance","synonyms":["EOSRD","SECORD"],"definition":"Une dystrophie rétinienne héréditaire caractérisée par une cécité nocturne congénitale sévère, une dystrophie rétinienne progressive et un nystagmus. L'acuité visuelle la mieux corrigée peut atteindre 0,3 au cours de la première décennie, et peut persister jusqu'à la deuxième décennie. La cécité est souvent totale à l'âge de 30 ans."},"de":{"name":"Schwere Netzhautdystrophie mit Beginn in früher Kindheit","synonyms":["Frühbeginnende schwere Netzhautdystrophie","SECORD","Schwere frühkindliche Netzhautdegeneration","EOSRD"],"definition":"Die Schwere Netzhautdystrophie mit Beginn in früher Kindheit (SECORD) ist eine vererbte Netzhautdystrophie, die durch eine schwere angeborene Nachtblindheit, eine progressive Netzhautdystrophie und Nystagmus gekennzeichnet ist. Die bestkorrigierte Sehschärfe kann im ersten Lebensjahrzehnt 0,3 erreichen und bis weit in das zweite Lebensjahrzehnt hinein bestehen. Die Erblindung ist oft bis zum Alter von 30 Jahren vollständig."},"es":{"name":"Distrofia retiniana grave de inicio en la infancia temprana","synonyms":["Distrofia retiniana grave de inicio precoz","EOSRD","SECORD"],"definition":"La distrofia retiniana grave de inicio en la infancia temprana (SECORD) es una distrofia retiniana hereditaria caracterizada por ceguera nocturna grave congénita, distrofia retiniana progresiva y nistagmo. La agudeza visual corregida máxima puede llegar a 0,3 en la primera década de la vida y puede permanecer hasta bien entrada la segunda década de la vida. La ceguera es completa, a menudo, a la edad de 30 años."},"it":{"name":"Distrofia retinica grave a esordio nella prima infanzia","synonyms":["Distrofia retinica grave a esordio precoce","EOSRD","SECORD"],"definition":"La distrofia retinica grave ad esordio nella prima infanzia (SECORD) è una distrofia ereditaria della retina, caratterizzata da grave cecità notturna congenita, distrofia progressiva della retina e nistagmo. La migliore acuità visiva corretta può raggiungere lo 0,3 nella prima decade di vita e può mantenersi stabile nella seconda decade. Di solito il paziente raggiunge la cecità completa prima dei 30 anni."},"nl":{"name":"Ernstige retinale dystrofie met aanvang in de vroege kindertijd","synonyms":["EOSRD","SECORD","Vroeg beginnende ernstige retinale dystrofie"],"definition":"Ernstige retinale dystrofie met aanvang in de vroege kindertijd (SECORD) is een erfelijke retinale dystrofie die gekarakteriseerd wordt door ernstige congenitale nachtblindheid, progressieve retinale dystrofie en nystagmus. De best gecorrigeerde gezichtsscherpte kan tot 0,3 gaan in het eerste levensdecennium en kan aanhouden tot ver in het tweede levensdecennium. Functieverlies van het zicht is vaak totaal tegen de leeftijd van 30 jaar."},"pt":{"name":"Distrofia da retina grave com início precoce na infância"},"pl":{"name":"Ciężka dystrofia siatkówki o początku w wieku wczesnodziecięcym","synonyms":["Ciężka dystrofia siatkówki o wczesnym początku","EOSRD","SECORD"]},"cs":{"name":"Těžká dystrofie sítnice s časným nástupem","synonyms":["EOSRD","SECORD","Těžká dystrofie sítnice s časným nástupem v dětském věku"]},"uk":{"name":"Тяжка дистрофія сітківки, що починається в ранньому дитинстві","synonyms":["Рання важка дистрофія сітківки","EOSRD","SECORD"],"definition":"Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years."},"zh":{"name":"儿童早期重度视网膜营养不良","synonyms":["早发性严重视网膜营养不良"],"definition":"重度儿童发作性视网膜营养不良(SECORD)是一种遗传性视网膜营养不良，以严重先天性夜盲、进行性视网膜营养不良和眼球震颤为特征。最佳矫正视力在生命的第一个十年可以达到0.3，并可以一直持续到生命的第二个十年。患者通常在30岁时就完全失明了。"},"tr":{"name":"Erken çocukluk döneminde başlayan ağır retina distrofisi","synonyms":["EOSRD","SECORD","Erken-başlangıçlı ağır retina distrofisi"]}},"xrefs":[{"source":"OMIM","code":"608133","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610125","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614186","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009549","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858080","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":730376,"name":"Rare acquired isolated progressive generalized retinal disorder","classifications":[189]},{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ALMS1","name":"ALMS1 centrosome and basal body associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40294858[PMID]","hgnc":"428","ensembl":"ENSG00000116127","omim":"606844","loci":["2p13.1"]},{"symbol":"CABP4","name":"calcium binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40294858[PMID]","hgnc":"1386","ensembl":"ENSG00000175544","omim":"608965","loci":["11q13.2"]},{"symbol":"KCNJ13","name":"potassium inwardly rectifying channel subfamily J member 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40294858[PMID]","hgnc":"6259","ensembl":"ENSG00000115474","omim":"603208","loci":["2q37.1"]},{"symbol":"LCA5","name":"lebercilin LCA5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23946133[PMID]","hgnc":"31923","ensembl":"ENSG00000135338","omim":"611408","loci":["6q14.1"]},{"symbol":"LRAT","name":"lecithin retinol acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22570351[PMID]","hgnc":"6685","ensembl":"ENSG00000121207","omim":"604863","loci":["4q32.1"]},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40294858[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]},{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23847139[PMID]","hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]},{"symbol":"RPE65","name":"retinoid isomerohydrolase RPE65","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10294","ensembl":"ENSG00000116745","omim":"180069","loci":["1p31.3"]},{"symbol":"SPATA7","name":"spermatogenesis associated 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21310915[PMID]","hgnc":"20423","ensembl":"ENSG00000042317","omim":"609868","loci":["14q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"Pr Birgit LORENZ[EXPERT]_Dr Markus PREISING[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-12","source":"28689169[PMID]_32865313[PMID]_30150358[PMID]_20811047[PMID]","terms":[{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007695","label":"Abnormal pupillary light reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007843","label":"Attenuation of retinal blood vessels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007737","label":"Bone spicule pigmentation of the retina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012426","label":"Optic disc drusen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000550","label":"Undetectable electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011488","label":"Abnormal corneal endothelium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012434","label":"Delayed social development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007793","label":"Granular macular appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001116","label":"Macular coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011484","label":"Posterior synechiae of the anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012230","label":"Rhegmatogenous retinal detachment","frequency":"Very rare (<4-1%)","criteria":null}]}}