[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/15789#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/15789","headline":"Leber\u306e\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9-Wikipedia","name":"Leber\u306e\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9-Wikipedia","description":"before-content-x4 \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9 \uff08\u30ae\u30ea\u30b7\u30e3\u8a9e\u1f00\u03bc\u03b1\u03c5\u03c1\u03cc\u03c2\uff08amauros\uff09= “dark\u3001blind”\uff09\u3001 \u5148\u5929\u6027\u30bf\u30da\u30c3\u30c8 – \u30ec\u30c1\u30ca\u30fc\u30eb\u30a2\u30de\u30ed\u30fc\u30ba \u307e\u305f LCA 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1","datePublished":"2023-10-17","dateModified":"2023-10-17","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/author\/lordneo#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/author\/lordneo","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/4\/4a\/Pictogram_voting_info.svg\/15px-Pictogram_voting_info.svg.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/4\/4a\/Pictogram_voting_info.svg\/15px-Pictogram_voting_info.svg.png","height":"15","width":"15"},"url":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/15789","wordCount":1980,"articleBody":" 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\u3053\u308c\u306b\u95a2\u4fc2\u306a\u304f\u3001\u3053\u306e\u6cbb\u7642\u306f2014\u5e74\u306b\u7c73\u56fd\u306e\u85ac\u7269FDA\u306b\u3088\u3063\u3066\u6f5c\u5728\u7684\u306a\u30d6\u30ec\u30fc\u30af\u30b9\u30eb\u30fc\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3001\u3053\u308c\u306b\u3088\u308a\u3001\u3055\u3089\u306a\u308b\u7b2cIII\u76f8\u8a66\u9a13\u306e\u59cb\u307e\u308a\u3001\u3057\u305f\u304c\u3063\u3066\u7814\u7a76\u4f5c\u696d\u306e\u7d99\u7d9a\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u3053\u306e\u7814\u7a76\u306e\u6700\u521d\u306e\u7d50\u679c\u306f\u3059\u3067\u306b\u63d0\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u672a\u89e3\u6c7a\u306e\u8cea\u554f\u3068\u6642\u306b\u306fFDA\u3067\u306e\u6279\u5224\u7684\u8a55\u4fa1\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u88fd\u9020\u696d\u8005\u304c\u6cbb\u7642\u624b\u9806\u306e\u627f\u8a8d\u3092\u7533\u8acb\u3057\u305f\u3044\u3068\u3044\u3046\u7d50\u679c\u3092\u3082\u305f\u3089\u3057\u3066\u3044\u307e\u3059\u3002 [27] [28] 2017\u5e74\u534a\u3070\u3001S\u3002\u30e9\u30c3\u30bb\u30eb\u3068\u540c\u50da\u306f\u3001\u30a2\u30c7\u30ce\u30a6\u30a4\u30eb\u30b9\u30d9\u30fc\u30b9\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u30d9\u30af\u30bf\u30fc\uff1aAAV2-HRPE65V2\u3068\u547c\u3070\u308c\u308b\u30a2\u30c7\u30ce\u95a2\u9023\u30a6\u30a4\u30eb\u30b9\uff09\u306b\u3088\u308b\u6b20\u9665Gen RPE65\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u6210\u529f\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u307e\u3057\u305f\u3002 [29] \u305d\u308c\u307e\u3067\u306e\u9593\u3001EU\u3068\u7c73\u56fd\u306e\u4e21\u65b9\u3067RPE65\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570\u306b\u5bfe\u3057\u3066\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u8a31\u53ef\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\u3001\u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30ed\u30fc\u30b9\u306e\u907a\u4f1d\u5b50\u7642\u6cd5\u3092\u53c2\u7167\u3057\u3066\u304f\u3060\u3055\u3044\u3002 Theodor Leber\u306f\u30011869\u5e74\u306b\u6700\u521d\u306b\u81e8\u5e8a\u50cf\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u307e\u3057\u305f\u30022\u5e74\u5f8c\u3001\u5f7c\u306f\u8840\u7e01\u8005\u306e\u983b\u7e41\u306a\u51fa\u6765\u4e8b\u3092\u8a8d\u8b58\u3057\u3001\u767a\u8868\u3057\u307e\u3057\u305f\u3002 1957\u5e74\u3001\u30ab\u30fc\u30eb\u30fb\u30d8\u30f3\u30ea\u30fc\u30fb\u30a2\u30eb\u30b9\u30c8\u30ed\u30e0\u306f\u3001\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\u306e\u5148\u5929\u6027\u5931\u660e\u306e\u75c7\u4f8b\u306e10\uff05\u3067\u521d\u3081\u3066\u5e38\u67d3\u8272\u4f53\u306e\u51f9\u90e8\u76f8\u7d9a\u3092\u5b9f\u8a3c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3057\u305f\u3002 [5] \u2191 a b c  Axenfeld\u3001Pau\uff1a \u773c\u79d1\u306e\u6559\u79d1\u66f8\u3068\u30a2\u30c8\u30e9\u30b9 \u3002 Gustav Fischer Verlag\u3001Stuttgart 1980\u3001ISBN 3-437-00255-4\u3001p\u3002550\u3002  \u2191 a b  \u30f4\u30a9\u30eb\u30d5\u30ac\u30f3\u30b0\u30fb\u30cf\u30de\u30fc\u30b9\u30bf\u30a4\u30f3\u3001\u30a6\u30a9\u30eb\u30bf\u30fc\u30fb\u30ea\u30c3\u30b7\u30e5\uff1a \u773c\u79d1\u907a\u4f1d\u5b66\u3002 Entelly Publishing\u3001Stuttgart 1985\u3001ISBN 3-4 3-432-94941-3\u3001p\u30028\u3002  \u2191  \u30aa\u30cb\u30e0 \u8868\u73fe\u578b\u30de\u30c3\u30d7 \u3001 \u3053\u3053\u3067\u30aa\u30f3\u30e9\u30a4\u30f3  \u2191  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u5b64\u5150\u9662 \uff08\u5e0c\u5c11\u75be\u60a3\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u3002  \u2191 a b  \u30aa\u30df\u30e0\uff1a \uff03204000  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03204100  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 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\u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03613829  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03613835  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03608553  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  T Jeffrey Keen\u3001Moin D Mohamed\u3001Martin McKibbin\u3001Yasmin Rashid\u3001Hussain Jafri\u3001Irene H Maumenee\u3001Chris f Inglehearn\uff1a \u67d3\u8272\u4f531p36\u306e\u30ec\u30d0\u30fc\u306e\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ea\u30b9\u306e\u907a\u4f1d\u5b50\u5ea7\uff08LCA9\uff09\u306e\u540c\u5b9a\u3002 \u306e\uff1a \u30e8\u30fc\u30ed\u30c3\u30d1\u30b8\u30e3\u30fc\u30ca\u30eb\u30aa\u30d6\u30d2\u30e5\u30fc\u30de\u30f3\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u30b9\u3002 11\u3001S\u3002420\u2013423\u3001 doi\uff1a10.1038\/sj.ejhg.5200981 \u3002  \u2191  \u30aa\u30df\u30e0\uff1a \uff03611755  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03613837  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03610612  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03612712  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03613341  \u809d\u81d3\u5148\u5929\u6027\u30a2\u30de\u30a6\u30ed\u30fc\u30b9\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  \u30aa\u30df\u30e0\uff1a \uff03613843  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