{"id":136675,"date":"2026-09-08T12:23:04","date_gmt":"2026-09-08T03:23:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136675"},"modified":"2026-09-08T12:23:04","modified_gmt":"2026-09-08T03:23:04","slug":"leber-congenital-amaurosis-2-rpe65","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-2-rpe65\/","title":{"rendered":"\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c2\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c2\u578b\uff08LCA2\uff09\u306f\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u3001\u3042\u308b\u3044\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u91cd\u3044\u8996\u529b\u969c\u5bb3\u304c\u73fe\u308c\u308b\u7db2\u819c\u306e\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>RPE65<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e16\u754c\u3067\u521d\u3081\u3066\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u627f\u8a8d\u3055\u308c\u305f\u7db2\u819c\u75be\u60a3<\/strong>\u3067\u3059\u3002\u56fd\u5185\u3067\u3082\u907a\u4f1d\u5b50\u6cbb\u7642\u85ac\u304c\u4f7f\u7528\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u8996\u6a5f\u80fd\u306e\u6539\u5584\u304c\u671f\u5f85\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>RPE65<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u3068\u3044\u3046\u7d30\u80de\u3067\u306f\u305f\u3089\u304f\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u5149\u3092\u53d7\u3051\u53d6\u3063\u305f\u3042\u3068\u306e\u30d3\u30bf\u30df\u30f3A\u7531\u6765\u306e\u7269\u8cea\uff08\u30ec\u30c1\u30ce\u30a4\u30c9\uff09\u3092\u3001\u518d\u3073\u5149\u3092\u611f\u3058\u3089\u308c\u308b\u5f62\u306b\u623b\u3059\u300c\u8996\u899a\u30b5\u30a4\u30af\u30eb\u300d\u306e\u4e2d\u5fc3\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001\u5149\u3092\u611f\u3058\u308b\u305f\u3081\u306e\u6750\u6599\u304c\u518d\u751f\u3055\u308c\u305a\u3001\u5149\u3092\u53d7\u3051\u53d6\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u7db2\u819c\u306e\u7d30\u80de\u306f\u6700\u521d\u306e\u3046\u3061\u751f\u304d\u6b8b\u3063\u3066\u3044\u308b\u305f\u3081\u3001<strong>\u65e9\u3044\u6642\u671f\u306b\u6cbb\u7642\u3059\u308c\u3070\u6a5f\u80fd\u3092\u53d6\u308a\u623b\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b<\/strong>\u70b9\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u6570\u304b\u6708\u304b\u3089\u306e\u8457\u3057\u3044\u8996\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li><strong>\u591c\u76f2\uff08\u6697\u3044\u3068\u3053\u308d\u3067\u6975\u7aef\u306b\u898b\u3048\u306b\u304f\u3044\uff09<\/strong>\uff1a\u65e9\u671f\u304b\u3089\u73fe\u308c\u308b\u7279\u5fb4\u7684\u306a\u75c7\u72b6<\/li>\n\n\n\n<li>\u773c\u632f\uff08\u76ee\u304c\u7d30\u304b\u304f\u3086\u308c\u308b\uff09<\/li>\n\n\n\n<li>\u77b3\u5b54\u306e\u53cd\u5fdc\u304c\u5f31\u3044<\/li>\n\n\n\n<li>\u76ee\u3092\u6307\u3067\u62bc\u3059\u30fb\u3053\u3059\u308b\u52d5\u4f5c\uff08\u6307\u773c\u5fb4\u5019\uff09<\/li>\n\n\n\n<li>\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u3067\u53cd\u5fdc\u304c\u307b\u3068\u3093\u3069\u8a18\u9332\u3055\u308c\u306a\u3044<\/li>\n\n\n\n<li>\u52a0\u9f62\u3068\u3068\u3082\u306b\u8996\u91ce\u304c\u72ed\u304f\u306a\u308a\u3001\u8996\u529b\u3082\u3055\u3089\u306b\u4f4e\u4e0b\u3059\u308b<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u4e73\u5150\u671f\u304b\u3089\u306e\u8996\u529b\u969c\u5bb3\u3001\u773c\u632f\u3001\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u306e\u5e73\u5766\u5316\u304b\u3089\u8a3a\u65ad\u3057\u307e\u3059\u3002\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c\u306b\u306f30\u8fd1\u3044\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u3069\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u304b\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u6cbb\u7642\u65b9\u91dd\u306b\u76f4\u7d50\u3057\u307e\u3059<\/strong>\u3002<strong>RPE65<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u30662\u578b\u3068\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30dc\u30ec\u30c1\u30b2\u30f3 \u30cd\u30d1\u30eb\u30dc\u30d9\u30af\uff08\u30e9\u30af\u30b9\u30bf\u30fc\u30ca\u00ae\uff09<\/strong>\uff1a\u7db2\u819c\u4e0b\u306b\u6ce8\u5c04\u3059\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u85ac\u3002<strong>\u4e21\u30a2\u30ec\u30eb\u306bRPE65\u5909\u7570\u304c\u3042\u308a\u3001\u751f\u5b58\u3057\u3066\u3044\u308b\u7db2\u819c\u7d30\u80de\u304c\u5341\u5206\u306b\u3042\u308b\u65b9\u304c\u5bfe\u8c61<\/strong>\u3067\u3059<\/li>\n\n\n\n<li>\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2\uff08\u62e1\u5927\u8aad\u66f8\u5668\u3001\u906e\u5149\u773c\u93e1\u3001\u767d\u6756\u306e\u8a13\u7df4\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u306e\u8a3a\u5bdf\u306b\u3088\u308b\u7d4c\u904e\u89b3\u5bdf<\/li>\n\n\n\n<li>\u6559\u80b2\u9762\u3067\u306e\u652f\u63f4\uff08\u70b9\u5b57\u3001\u97f3\u58f0\u6559\u6750\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u6cbb\u7642\u306e\u5bfe\u8c61\u306b\u306a\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u304b\u3081\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u65e9\u3081\u306b\u53d7\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>RPE65<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>RPE65<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c2\u578b\u306f <strong>RPE65<\/strong>\uff081p31.2\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002RPE65\u306f\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u306b\u767a\u73fe\u3059\u308b all-trans-retinyl ester isomerohydrolase \u3067\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\u306b\u304a\u3044\u3066 all-trans-retinyl ester \u3092 11-cis-retinol \u3078\u7570\u6027\u5316\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u3067\u306f11-cis-retinal \u306e\u4f9b\u7d66\u304c\u7d76\u305f\u308c\u3001\u8996\u7d30\u80de\u306f\u5f62\u614b\u7684\u306b\u4fdd\u305f\u308c\u306a\u304c\u3089\u6a5f\u80fd\u3092\u5931\u3046\u3002\u3053\u306e<strong>\u300c\u7d30\u80de\u306f\u751f\u304d\u3066\u3044\u308b\u304c\u6a5f\u80fd\u3057\u3066\u3044\u306a\u3044\u300d\u3068\u3044\u3046\u75c5\u614b<\/strong>\u304c\u3001\u907a\u4f1d\u5b50\u88dc\u5145\u7642\u6cd5\u306e\u7406\u8ad6\u7684\u6839\u62e0\u3068\u306a\u3063\u305f\u3002<\/p>\n\n\n\n<p>\u30dc\u30ec\u30c1\u30b2\u30f3 \u30cd\u30d1\u30eb\u30dc\u30d9\u30af\uff08voretigene neparvovec\u3001AAV2\u30d9\u30af\u30bf\u30fc\uff09\u306f2017\u5e74\u306bFDA\u30012018\u5e74\u306bEMA\u3001\u65e5\u672c\u3067\u30822023\u5e74\u306b\u627f\u8a8d\u3055\u308c\u305f\u3002\u7b2c3\u76f8\u8a66\u9a13\u3067\u306f multi-luminance mobility test\uff08MLMT\uff09\u3067\u6709\u610f\u306a\u6539\u5584\u304c\u793a\u3055\u308c\u3001\u6697\u6240\u3067\u306e\u79fb\u52d5\u80fd\u529b\u304c\u5411\u4e0a\u3057\u305f\u3002<strong>\u9069\u5fdc\u306b\u306f\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306e\u78ba\u8a8d\u3068\u3001\u5341\u5206\u306a\u751f\u5b58\u8996\u7d30\u80de\uff08OCT\u3067\u306e\u7db2\u819c\u539a\uff09\u304c\u5fc5\u8981<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>RPE65\u5909\u7570\u306f\u3001\u3088\u308a\u8efd\u75c7\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\uff08RP20\uff09\u3068\u3057\u3066\u3082\u8868\u73fe\u3055\u308c\u308b\u3002LCA\u306f\u907a\u4f1d\u7684\u7570\u8cea\u6027\u304c\u9ad8\u304f\uff08CEP290\u3001GUCY2D\u3001CRB1\u3001AIPL1 \u306a\u3069\uff09\u3001\u6cbb\u7642\u53ef\u80fd\u306a\u578b\u3092\u540c\u5b9a\u3059\u308b\u610f\u7fa9\u304b\u3089\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u9808\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u53d7\u3051\u3089\u308c\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. <strong>RPE65<\/strong> \u306e\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308a\u3001\u7db2\u819c\u306e\u7d30\u80de\u304c\u5341\u5206\u306b\u6b8b\u3063\u3066\u3044\u308b\u65b9\u304c\u5bfe\u8c61\u3067\u3059\u3002\u307e\u305a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3068\u7db2\u819c\u306e\u72b6\u614b\u306e\u8a55\u4fa1\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u3067\u8996\u529b\u306f\u3069\u306e\u304f\u3089\u3044\u623b\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6697\u3044\u3068\u3053\u308d\u3067\u306e\u79fb\u52d5\u306e\u3057\u3084\u3059\u3055\u304c\u6539\u5584\u3057\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u8996\u529b\u304c\u5b8c\u5168\u306b\u623b\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3044\u3064\u6cbb\u7642\u3092\u53d7\u3051\u308b\u306e\u304c\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u7db2\u819c\u306e\u7d30\u80de\u304c\u6b8b\u3063\u3066\u3044\u308b\u3046\u3061\u304c\u671b\u307e\u3057\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u65e9\u3081\u306b\u773c\u79d1\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u304a\u53d7\u3051\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c\u306b\u306f\u7a2e\u985e\u304c\u3042\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u300230\u8fd1\u3044\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u6cbb\u7642\u306e\u5bfe\u8c61\u306b\u306a\u308b\u306e\u306f RPE65 \u304c\u539f\u56e0\u306e\u578b<\/strong>\u3067\u3059\u306e\u3067\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u598a\u5a20\u306e\u305f\u3073\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Marlhens F, Bareil C, Griffoin JM, et al. Mutations in RPE65 cause Leber congenital amaurosis. <em>Nat Genet<\/em>. 1997;17(2):139-141.<\/li>\n\n\n\n<li>Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber congenital amaurosis. <em>N Engl J Med<\/em>. 2008;358(21):2240-2248.<\/li>\n\n\n\n<li>Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. <em>Lancet<\/em>. 2017;390(10097):849-860.<\/li>\n\n\n\n<li>Kumaran N, Moore AT, Weleber RG, Michaelides M. Leber congenital amaurosis\/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. <em>Br J Ophthalmol<\/em>. 2017;101(9):1147-1154.<\/li>\n\n\n\n<li>OMIM #204100 Leber congenital amaurosis 2<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136675","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136675","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136675\/revisions"}],"predecessor-version":[{"id":137045,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136675\/revisions\/137045"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136675"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}