{"?xml":{"@version":"1.0"},"edm:RDF":{"@xmlns:dc":"http://purl.org/dc/elements/1.1/","@xmlns:edm":"http://www.europeana.eu/schemas/edm/","@xmlns:wgs84_pos":"http://www.w3.org/2003/01/geo/wgs84_pos","@xmlns:foaf":"http://xmlns.com/foaf/0.1/","@xmlns:rdaGr2":"http://rdvocab.info/ElementsGr2","@xmlns:oai":"http://www.openarchives.org/OAI/2.0/","@xmlns:owl":"http://www.w3.org/2002/07/owl#","@xmlns:rdf":"http://www.w3.org/1999/02/22-rdf-syntax-ns#","@xmlns:ore":"http://www.openarchives.org/ore/terms/","@xmlns:skos":"http://www.w3.org/2004/02/skos/core#","@xmlns:dcterms":"http://purl.org/dc/terms/","edm:WebResource":[{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-14DFTUDW/b2501926-3670-40f2-a97b-bf32777ce181/PDF","dcterms:extent":"4377 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-14DFTUDW/db88f9de-c3b8-40c3-a3ca-aba04c73a252/TEXT","dcterms:extent":"55 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-14DFTUDW/7c440c05-8544-43d8-a186-0d21f297d120/PDF","dcterms:extent":"4446 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-14DFTUDW/bc7f8fa5-f2da-4b58-8d7c-73c80569ece9/TEXT","dcterms:extent":"57 KB"}],"edm:TimeSpan":{"@rdf:about":"1929-2026","edm:begin":{"@xml:lang":"en","#text":"1929"},"edm:end":{"@xml:lang":"en","#text":"2026"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:doc-14DFTUDW","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/urn:nbn:si:spr-a30mfzkp"},{"@xml:lang":"sl","#text":"Zdravniški vestnik"}],"dcterms:issued":"2022","dc:creator":["Burgar, Jan","Fakin, Ana","Glavač, Damjan","Hawlina, Marko","Jarc-Vidmar, Martina","Petrović Pajić, Sanja","Šega, Rok","Volk, Marija"],"dc:format":[{"@xml:lang":"sl","#text":"številka:9/10"},{"@xml:lang":"sl","#text":"letnik:91"},{"@xml:lang":"sl","#text":"str. 398-411"}],"dc:identifier":["DOI:10.6016/ZdravVestn.3234","ISSN:1318-0347","COBISSID_HOST:178657283","URN:URN:NBN:SI:doc-14DFTUDW"],"dc:language":"sl","dc:publisher":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"dc:subject":[{"@xml:lang":"en","#text":"amblyopia"},{"@xml:lang":"en","#text":"genetics"},{"@xml:lang":"sl","#text":"genetika"},{"@xml:lang":"en","#text":"mitochondrial diseases"},{"@xml:lang":"sl","#text":"mitohondrijske bolezni"},{"@xml:lang":"sl","#text":"slabovidnost"}],"dcterms:temporal":{"@rdf:resource":"1929-2026"},"dc:title":{"@xml:lang":"sl","#text":"Leberjeva hereditarna optična nevropatija| pregled bolezni z analizo prisotnosti v Sloveniji| Leber’s hereditary optic neuropathy| a review and prevalence analysis in the Slovenian population|"},"dc:description":{"@xml:lang":"sl","#text":"Leberjeva hereditarna optična nevropatija (LHON) je redka dedna mitohondrijska bolezen, ki povzroča slepoto najpogo-steje pri mladih odraslih. Navadno se izrazi kot subakutna, neboleča izguba vida na eno oko, ki ji sledi poslabšanje vida drugega očesa v nekaj tednih do mesecih. Bolezen večinoma pušča trajne posledice, le pri nekaterih bolnikih lahko v red-kih primerih pride do delnega spontanega izboljšanja vida. Razmerje med moškimi in ženskimi bolniki se ocenjuje na 3 : 1. V zadnjih letih je z razvojem zdravilne učinkovine idebenone možno podporno farmakološko zdravljenje, ki lahko prispeva k delnemu izboljšanju vidne funkcije. Bolezen zaradi svoje redkosti velikokrat ostane ne- ali napačno diagnosticirana. V članku predstavljamo štiri klinične primere bolnikov, pri katerih se je po obsežnem in dolgotrajnem diagnosticiranju izka-zalo, da imajo LHON. Od leta 1996 se v Sloveniji vodi baza bolnikov z redkimi dednimi očesnimi boleznimi. Na tej podlagi je ocenjena prevalenca LHON 1/72.000. Ob sumu na bolezen so ključni družinska anamneza slabovidnosti po materini strani, genetsko testiranje in napotitev na obravnavo ter zdravljenje v terciarno ustanovo"},"edm:type":"TEXT","dc:type":[{"@xml:lang":"sl","#text":"znanstveno časopisje"},{"@xml:lang":"en","#text":"journals"},{"@rdf:resource":"http://www.wikidata.org/entity/Q361785"}]},"ore:Aggregation":{"@rdf:about":"http://www.dlib.si/?URN=URN:NBN:SI:doc-14DFTUDW","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:doc-14DFTUDW"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:doc-14DFTUDW/b2501926-3670-40f2-a97b-bf32777ce181/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by-nc/4.0/"},"edm:provider":"Slovenian National E-content Aggregator","edm:intermediateProvider":{"@xml:lang":"en","#text":"National and University Library of Slovenia"},"edm:dataProvider":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:doc-14DFTUDW/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:doc-14DFTUDW"}}}}