{"id":122031,"date":"2026-01-08T14:48:40","date_gmt":"2026-01-08T05:48:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122031"},"modified":"2026-03-03T15:37:16","modified_gmt":"2026-03-03T06:37:16","slug":"leber-congenital-amaurosis-type-cep290","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-type-cep290\/","title":{"rendered":"\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\uff08CEP290\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\uff08Leber Congenital Amaurosis\uff1aLCA\uff09\u306f\u3001\u751f\u4e0b\u6642\u307e\u305f\u306f\u4e73\u5150\u65e9\u671f\u304b\u3089\u91cd\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u3092\u5448\u3059\u308b\u5148\u5929\u6027\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u7dcf\u79f0\u3067\u3059\u3002CEP290\u95a2\u9023\u578b\u306f\u305d\u306e\u4e3b\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u7db2\u819c\u306e\u8996\u7d30\u80de\u306e\u69cb\u9020\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a\u4e2d\u5fc3\u4f53\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\uff08CEP290\uff09\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n

CEP290\u306f\u8996\u7d30\u80de\u306e\u7e4a\u6bdb\u79fb\u884c\u5e2f\u306b\u5c40\u5728\u3057\u3001\u5916\u7bc0\u5f62\u6210\u3084\u86cb\u767d\u8f38\u9001\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u305d\u306e\u969c\u5bb3\u306b\u3088\u308a\u8996\u7d30\u80de\u306e\u6210\u719f\u3084\u7dad\u6301\u304c\u3067\u304d\u305a\u3001\u65e9\u671f\u304b\u3089\u7db2\u819c\u6a5f\u80fd\u304c\u7834\u7dbb\u3057\u307e\u3059\u3002LCA\u306f\u8996\u529b\u4f4e\u4e0b\u304c\u4e0d\u53ef\u9006\u7684\u3067\u3042\u308b\u70b9\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76\u304c\u6700\u3082\u9032\u3093\u3067\u3044\u308b\u75be\u60a3\u306e\u4e00\u3064\u3067\u3082\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

LCA\u5168\u4f53\u306e\u983b\u5ea6\u306f\u7d048\u4e07\u51fa\u751f\u306b1\u4eba\u3068\u3055\u308c\u3001\u305d\u306e\u3046\u3061CEP290\u5909\u7570\u306f\u7d0420\u301c30%\u3092\u5360\u3081\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b27\u7c73\u3092\u4e2d\u5fc3\u306b\u5831\u544a\u304c\u591a\u304f\u3001\u65e5\u672c\u3067\u3082\u6563\u767a\u7684\u306b\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fCEP290\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002CEP290\u907a\u4f1d\u5b50\u306f\u30d2\u30c812\u756a\u67d3\u8272\u4f53\uff0812q21.32\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u8996\u7d30\u80de\u7e4a\u6bdb\u79fb\u884c\u5e2f\u69cb\u9020\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u6b20\u640d\u3059\u308b\u3068\u8996\u7d30\u80de\u5916\u7bc0\u5f62\u6210\u969c\u5bb3\u304c\u8d77\u3053\u308a\u3001\u5149\u53d7\u5bb9\u6a5f\u80fd\u304c\u5931\u308f\u308c\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u4e73\u5150\u671f<\/strong><\/h3>\n\n\n\n
    \n
  • \u8996\u7dda\u304c\u5408\u308f\u306a\u3044<\/li>\n\n\n\n
  • \u773c\u632f<\/li>\n\n\n\n
  • \u5149\u3078\u306e\u53cd\u5fdc\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

    \u5c0f\u5150\u671f\u4ee5\u964d<\/strong><\/h3>\n\n\n\n
      \n
    • \u8996\u529b\u4f4e\u4e0b\u306e\u9032\u884c<\/li>\n\n\n\n
    • \u8996\u91ce\u72ed\u7a84<\/li>\n\n\n\n
    • \u591c\u76f2<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u81e8\u5e8a\u6240\u898b\uff08\u5148\u5929\u6027\u8996\u899a\u969c\u5bb3\uff0b\u773c\u632f\uff09<\/li>\n\n\n\n
      2. ERG\u7121\u53cd\u5fdc\u307e\u305f\u306f\u8457\u6e1b<\/li>\n\n\n\n
      3. OCT\u3067\u7db2\u819c\u5c64\u7570\u5e38<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08CEP290\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u4f4e\u8996\u529b\u652f\u63f4<\/li>\n\n\n\n
        • \u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u81e8\u5e8a\u8a66\u9a13\u4e2d\uff09<\/li>\n\n\n\n
        • \u8996\u899a\u88dc\u52a9\u5177<\/li>\n\n\n\n
        • \u5b9a\u671f\u773c\u79d1\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n

          \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

          \u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
          den Hollander AI et al. Mutations in CEP290 cause Leber congenital amaurosis. Nat Genet. 2006.(Nature)
          Leber Congenital Amaurosis \u2014 GeneReviews, PubMed Central.(PMC)
          CEP290-Related Retinal Disease \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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