{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T11:44:59Z","timestamp":1698493499893},"reference-count":27,"publisher":"Akademiai Kiado Zrt.","issue":"48","license":[{"start":{"date-parts":[[2022,11,27]],"date-time":"2022-11-27T00:00:00Z","timestamp":1669507200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,11,27]]},"abstract":"<jats:p><jats:italic>Bevezet\u00e9s:<\/jats:italic> A Leber-f\u00e9le congenitalis amaurosis az \u00f6r\u00f6kletes\n                    idegh\u00e1rtya-dystrophi\u00e1k csoportj\u00e1ba tartoz\u00f3, genetikailag igazolhat\u00f3 olyan\n                    k\u00f3rk\u00e9p, mely m\u00e1r fiatalkorban jelent\u0151s l\u00e1t\u00e1sroml\u00e1shoz vezet. A betegs\u00e9g el\u0151sz\u00f6r\n                    a l\u00e1t\u00f3t\u00e9r koncentrikus besz\u0171k\u00fcl\u00e9s\u00e9t, id\u0151vel pedig a centr\u00e1lis l\u00e1t\u00e1s elveszt\u00e9s\u00e9t\n                    okozza. A voretig\u00e9n neparvovec (Luxturna<jats:sup>\u00ae<\/jats:sup>, Novartis Pharmaceuticals\n                    AG, B\u00e1zel, Sv\u00e1jc) ter\u00e1pia r\u00e9v\u00e9n az RPE65-g\u00e9n mut\u00e1ci\u00f3ja k\u00f6vetkezt\u00e9ben kialakul\u00f3\n                    idegh\u00e1rtya-dystrophia az els\u0151 olyan szem\u00e9szeti k\u00f3rk\u00e9p, mely eset\u00e9n lehet\u0151s\u00e9g van\n                    g\u00e9nter\u00e1pia alkalmaz\u00e1s\u00e1ra. <jats:italic>C\u00e9lkit\u0171z\u00e9s:<\/jats:italic> Az RPE65 biallelikus\n                    g\u00e9nmut\u00e1ci\u00f3 miatt voretig\u00e9n neparvovec g\u00e9nter\u00e1pi\u00e1ban els\u0151k\u00e9nt r\u00e9szes\u00fclt magyar\n                    betegek kezel\u00e9si eredm\u00e9nyeinek bemutat\u00e1sa. <jats:italic>M\u00f3dszer:<\/jats:italic> Genetikai\n                    vizsg\u00e1lattal igazoltan RPE65 biallelikus g\u00e9nmut\u00e1ci\u00f3ban szenved\u0151 k\u00e9t beteg\u00fcnk\n                    egy-egy szem\u00e9n voretig\u00e9n neparvovec g\u00e9nter\u00e1pi\u00e1ban r\u00e9szes\u00fclt. A kezel\u00e9st\n                    megel\u0151z\u0151en, valamint az ut\u00e1nk\u00f6vet\u00e9s id\u0151szak\u00e1ban vizsg\u00e1ltuk a legjobb korrig\u00e1lt\n                    l\u00e1t\u00e1s\u00e9less\u00e9get, a centr\u00e1lis retinavastags\u00e1got, a l\u00e1t\u00f3t\u00e9rsz\u0171k\u00fclet m\u00e9rt\u00e9k\u00e9t,\n                    valamint elektrofiziol\u00f3giai vizsg\u00e1latokat v\u00e9gezt\u00fcnk.\n                        <jats:italic>Eredm\u00e9nyek:<\/jats:italic> A kezel\u00e9s hat\u00e1s\u00e1ra mind a legjobb korrig\u00e1lt\n                    l\u00e1t\u00e1s\u00e9less\u00e9g (a testv\u00e9rp\u00e1r id\u0151sebb tagj\u00e1n\u00e1l +3, a fiatalabb testv\u00e9rn\u00e9l +10\n                    bet\u0171), mind a l\u00e1t\u00f3t\u00e9rsz\u0171k\u00fclet m\u00e9rt\u00e9ke javul\u00e1st mutatott mindk\u00e9t beteg eset\u00e9ben.\n                    A l\u00e1t\u00e1sfunkci\u00f3k v\u00e1ltoz\u00e1sa jelent\u0151s \u00e9letmin\u0151s\u00e9g-javul\u00e1st eredm\u00e9nyezett betegeink\n                    mindennapi \u00e9let\u00e9ben. <jats:italic>K\u00f6vetkeztet\u00e9s:<\/jats:italic> Betegeink posztoperat\u00edv\n                    eredm\u00e9nyei korrel\u00e1lnak a klinikai vizsg\u00e1latok eredm\u00e9nyeivel. Orv Hetil. 2022;\n                    163(48): 1923\u20131931.<\/jats:p>","DOI":"10.1556\/650.2022.32636","type":"journal-article","created":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T15:06:48Z","timestamp":1669734408000},"page":"1923-1931","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["Szem\u00e9szeti javallat alapj\u00e1n v\u00e9gzett g\u00e9nter\u00e1pi\u00e1s kezel\u00e9s RPE65 biallelikus g\u00e9nmut\u00e1ci\u00f3 okozta \u00f6r\u00f6kl\u0151d\u0151 idegh\u00e1rtya-dystrophi\u00e1ban."],"prefix":"10.1556","volume":"163","author":[{"given":"Eszter","family":"Vizv\u00e1ri","sequence":"first","affiliation":[{"name":"Szegedi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szent-Gy\u00f6rgyi Albert Klinikai K\u00f6zpont, Szem\u00e9szeti Klinika Szeged, Kor\u00e1nyi fasor 10\u201311., 6726 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilla","family":"Smeller","sequence":"additional","affiliation":[{"name":"Szegedi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szent-Gy\u00f6rgyi Albert Klinikai K\u00f6zpont, Szem\u00e9szeti Klinika Szeged, Kor\u00e1nyi fasor 10\u201311., 6726 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"J\u00e1nossy","sequence":"additional","affiliation":[{"name":"Szegedi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szent-Gy\u00f6rgyi Albert Klinikai K\u00f6zpont, Szem\u00e9szeti Klinika Szeged, Kor\u00e1nyi fasor 10\u201311., 6726 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1t\u00e9","family":"L\u0151rincz","sequence":"additional","affiliation":[{"name":"Koppenh\u00e1gai Egyetem, Eg\u00e9szs\u00e9g\u00fcgyi \u00e9s Orvostudom\u00e1nyi Kar Koppenh\u00e1ga D\u00e1nia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Jan\u00e1ky","sequence":"additional","affiliation":[{"name":"Szegedi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szent-Gy\u00f6rgyi Albert Klinikai K\u00f6zpont, Szem\u00e9szeti Klinika Szeged, Kor\u00e1nyi fasor 10\u201311., 6726 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edit","family":"T\u00f3th-Moln\u00e1r","sequence":"additional","affiliation":[{"name":"Szegedi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szent-Gy\u00f6rgyi Albert Klinikai K\u00f6zpont, Szem\u00e9szeti Klinika Szeged, Kor\u00e1nyi fasor 10\u201311., 6726 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","article-title":"Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease","volume":"124","author":"1 Stone","year":"2017","unstructured":"1 Stone EM, Andorf JL, Whitmore SS, et al. 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