{"orpha":86813,"name":"Helicoid peripapillary chorioretinal degeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atrophia areata","SCRA","Sveinsson chorioretinal atrophy"],"definition":"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86813/","orphanet_url":"https://www.orpha.net/en/disease/detail/86813","names":{"fr":{"name":"Dégénérescence choriorétinienne péripapillaire hélicoïdale","synonyms":["Atrophia areata","Atrophie choriorétinienne de Sveinsson"],"definition":"Dégénérescence choriorétinienne rare à transmission autosomique dominante, apparaissant à la naissance ou pendant la petite enfance, caractérisée par une atrophie rétinienne et choroïdienne bilatérale progressive, se manifestant par des lésions du nerf optique et du fond d'oeil périphérique, entraînant une perte de la vision centrale. Une cataracte polaire antérieure congénitale est parfois associée."},"de":{"name":"Chorioretinale Degeneration, helikoid-peripapilläre","synonyms":["Atrophia areata","Degeneration, chorioretinale, Typ Sveinsson"],"definition":"Die Helikoid-peripapilläre chorioretinale Degeneration ist eine seltene, autosomal-dominant vererbte chorioretinale Degeneration, die von Geburt oder Säuglingsalter an besteht. Sie ist gekennzeichnet durch progrediente beidseitige Atrophie der Retina und der Choroidea, erscheint als Läsion des Sehnerven und des peripheren Augenhintergrundes und führt zum Verlust des zentralen Sehens. Manchmal ist diese Krankheit mit einer kongenitalen vorderen Polkatarakt assoziiert."},"es":{"name":"Degeneración helicoidal peripapilar coriorretiniana","synonyms":["Atrofia coriorretiniana de Sveinsson","SCRA"],"definition":"La degeneración helicoidal peripapilar coriorretiniana es una enfermedad degenerativa coriorretiniana hereditaria autosómica dominante poco frecuente, que se presenta al nacimiento o en la infancia, y que se caracteriza por atrofia bilateral progresiva de la retina y la coroides. Se manifiesta en forma de lesiones en el nervio óptico y el fondo ocular periférico y da lugar a pérdida de visión central. Las cataratas polares anteriores congénitas están asociadas a veces con esta enfermedad."},"it":{"name":"Degenerazione corioretinica peripapillare elicoidale","synonyms":["Atrofia aerata","Atrofia corioretinica di Sveinsson"]},"nl":{"name":"Helicoïde peripapillaire chorioretinale degeneratie","synonyms":["Atrophia areata","Chorioretinale atrofie van Sveinsson","SCRA"],"definition":"Een zeldzame autosomaal dominant overgeërfde aandoening met chorioretinale degeneratie, met presentatie bij de geboorte of in de zuigelingentijd, gekenmerkt door progressieve bilaterale atrofie van retina en choroidea, wat zich manifesteert als laesies van oogzenuw en perifere fundus oculi en leidt tot verlies van centraal zicht. Soms is congenitaal anterieur polair cataract geassocieerd met de ziekte."},"pt":{"name":"Degeneração coriorretiniana peripapilar helicoidal"},"pl":{"name":"Okołotarczowa degeneracja naczyniówki i siatkówki","synonyms":["Atrofia miejscowa","SCRA","Zanik siatkówki i naczyniówki Sveinssona"]},"cs":{"name":"Helikoidní peripapilární chorioretinální degenerace","synonyms":["Atrofia areata","SCRA","Sveinssonova chorioretinální atrofie"]},"uk":{"name":"Гелікоїдна перипапілярна хоріоретинальна дегенерація","synonyms":["Атрофія ареату","SCRA","Хоріоретинальна атрофія Свейнссона"],"definition":"Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease."},"zh":{"name":"螺旋状视乳头周围型脉络膜视网膜变性","synonyms":["Sveinsson视网膜脉络膜萎缩"]},"tr":{"name":"Helikoid peripapiller korioretinal dejenerasyonu","synonyms":["SCRA","Atrofi areata","Sveinsson korioretinal atrofi"]}},"xrefs":[{"source":"OMIM","code":"108985","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H31.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"896652469"},{"source":"MONDO","code":"0007176","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566236","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862382","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717317,"name":"Rare genetic isolated progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":716348,"name":"Rare isolated progressive predominantly chorioretinal disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"TEAD1","name":"TEA domain transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15016762[PMID]","hgnc":"11714","ensembl":"ENSG00000187079","omim":"189967","loci":["11p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}