{"id":101541,"date":"2025-06-17T12:37:41","date_gmt":"2025-06-17T03:37:41","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101541"},"modified":"2026-05-05T10:28:36","modified_gmt":"2026-05-05T01:28:36","slug":"leber-congenital-amaurosis-type-cep290-lca10","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/","title":{"rendered":"CEP290\u95a2\u9023Leber\u5148\u5929\u9ed2\u5185\u969c\uff08LCA10\uff09\u3010CEP290\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%9C%BC%E7%A7%91%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u773c\u79d1\u7684\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\" >\u9451\u5225\u8a3a\u65ad<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%8F%BE%E5%9C%A8%E3%81%AE%E7%AE%A1%E7%90%86\" >\u73fe\u5728\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E9%96%8B%E7%99%BA%E4%B8%AD%E3%81%AE%E6%B2%BB%E7%99%82%E6%B3%95\" >\u958b\u767a\u4e2d\u306e\u6cbb\u7642\u6cd5<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#1_%E3%82%A2%E3%83%B3%E3%83%81%E3%82%BB%E3%83%B3%E3%82%B9%E3%82%AA%E3%83%AA%E3%82%B4%E3%83%8C%E3%82%AF%E3%83%AC%E3%82%AA%E3%83%81%E3%83%89%E7%99%82%E6%B3%95%EF%BC%88AON_Antisense_Oligonucleotide%EF%BC%89\" >1. \u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7642\u6cd5\uff08AON: Antisense Oligonucleotide\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#2_%E3%82%B2%E3%83%8E%E3%83%A0%E7%B7%A8%E9%9B%86%EF%BC%88CRISPR-Cas9%EF%BC%89\" >2. \u30b2\u30ce\u30e0\u7de8\u96c6\uff08CRISPR-Cas9\uff09<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u300cLeber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u300d\u3068\u3044\u3046\u3001\u751f\u307e\u308c\u3064\u304d\u8996\u529b\u304c\u5f31\u3044\u307e\u307e\u306e\u72b6\u614b\u304c\u7d9a\u304f\u76ee\u306e\u75c5\u6c17\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u7279\u306b\u3001<strong>CEP290\uff08\u30bb\u30f3\u30c8\u30ed\u30bd\u30fc\u30e0\u305f\u3093\u3071\u304f\u8cea290\uff09<\/strong>\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u539f\u56e0\u304c\u3042\u308b\u30bf\u30a4\u30d7\u306eLCA\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001<\/p>\n<p>\u30fb\u3053\u306e\u75c5\u6c17\u304c\u3069\u3046\u3057\u3066\u8d77\u3053\u308b\u306e\u304b<br>\n\u30fb\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u3042\u308b\u306e\u304b<br>\n\u30fb\u3069\u306e\u3088\u3046\u306b\u8a3a\u65ad\u3055\u308c\u308b\u306e\u304b<br>\n\u30fb\u73fe\u5728\u306e\u6cbb\u7642\u3084\u7814\u7a76\u306e\u9032\u307f\u5177\u5408<\/p>\n<p>\u306a\u3069\u3092\u3001\u533b\u7642\u95a2\u4fc2\u8005\u306e\u65b9\u3060\u3051\u3067\u306a\u304f\u3001\u3054\u5bb6\u65cf\u3084\u4e00\u822c\u306e\u65b9\u306b\u3082\u308f\u304b\u308a\u3084\u3059\u3044\u3088\u3046\u306b\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u304a\u5b50\u3055\u307e\u3084\u3054\u5bb6\u65cf\u306e\u5c06\u6765\u306b\u95a2\u308f\u308b\u5927\u5207\u306a\u60c5\u5831\u3092\u3001\u843d\u3061\u7740\u3044\u3066\u77e5\u308b\u305f\u3081\u306e\u4e00\u52a9\u3068\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>CEP290<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/CEP290-hgtIdeo_genome_asia_ca18b_d00b0-1024x26.png\" alt=\"CEP290\" class=\"wp-image-101543\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Leber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u306f\u3001\u300cCEP290\uff08\u30bb\u30f3\u30c8\u30ed\u30bd\u30fc\u30e0\u30bf\u30f3\u30d1\u30af\u8cea290\uff1aCentrosomal protein 290\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002CEP290\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e12\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08\u30d0\u30f3\u30c9\u4f4d\u7f6e\uff1a12q21.32\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u304a\u308a\u3001\u907a\u4f1d\u5b50\u5168\u4f53\u306e\u9577\u3055\u306f\u7d0493,000\u5869\u57fa\u5bfe\uff08\u30d9\u30fc\u30b9\u30da\u30a2\uff09\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u300c\u4e2d\u5fc3\u5c0f\u4f53\uff08centrosome\uff09\u300d\u3084\u300c\u7dda\u6bdb\uff08cilia\uff09\u300d\u3068\u3044\u3046\u5fae\u7d30\u306a\u69cb\u9020\u306b\u95a2\u308f\u3063\u3066\u304a\u308a\u3001\u7279\u306b\u76ee\u306e\u300c\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\uff08photoreceptor cells\uff09\u300d\u3067\u91cd\u8981\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u3068\u306f\u3001\u5149\u3092\u611f\u3058\u3066\u8133\u3078\u4fe1\u53f7\u3092\u9001\u308b\u3001\u8996\u529b\u306b\u76f4\u63a5\u95a2\u308f\u308b\u7d30\u80de\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>CEP290\u907a\u4f1d\u5b50\u306b\u306f\u8907\u6570\u306e\u5225\u540d\u304c\u3042\u308a\u3001\u7814\u7a76\u6587\u732e\u306a\u3069\u3067\u306fKIAA0373\u3001LCA10\u3001JBTS5\u3001BBS14\u3001NPHP6\u306a\u3069\u3068\u8a18\u8f09\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u300cLeber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002LCA\u3068\u306f\u3001\u300cLeber Congenital Amaurosis\uff08\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c\uff09\u300d\u306e\u7565\u3067\u3001\u751f\u307e\u308c\u3064\u304d\u307e\u305f\u306f\u4e73\u5150\u671f\u65e9\u671f\u306b\u8996\u899a\u969c\u5bb3\u3092\u5448\u3059\u308b\u91cd\u7be4\u306a\u7db2\u819c\u75be\u60a3\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/p>\n\n\n\n<p>LCA10\u306f\u3001LCA\u306e\u4e2d\u3067\u3082\u7279\u306bCEP290\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u30bf\u30a4\u30d7\u3092\u6307\u3057\u307e\u3059\u3002\u51fa\u751f\u6642\u304b\u3089\u306e\u91cd\u5ea6\u306a\u8996\u899a\u969c\u5bb3\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Leber\u5148\u5929\u9ed2\u5185\u969c\uff08LCA\uff09\u306f\u3001\u751f\u5f8c\u3059\u3050\u306b\u898b\u3064\u304b\u308b\u91cd\u3044\u8996\u899a\u969c\u5bb3\u306e\u4e00\u7fa4\u3067\u3001\u7db2\u819c\uff08\u76ee\u306e\u5965\u3067\u5149\u3092\u611f\u3058\u308b\u819c\u72b6\u306e\u7d44\u7e54\uff09\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002LCA10\u306f\u305d\u306e\u4e2d\u3067\u3082\u6700\u3082\u591a\u3044\u907a\u4f1d\u7684\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u4e00\u3064\u3067\u3001CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>LCA10\u3067\u306f\u3001\u76ee\u306e\u69cb\u9020\uff08\u7279\u306b\u4e2d\u5fc3\u90e8\u5206\u3067\u3042\u308b\u300c\u4e2d\u5fc3\u7aa9\uff1afovea\u300d\uff09\u304c\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u6a5f\u80fd\u7684\u306a\u8996\u529b\u306f\u975e\u5e38\u306b\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u69cb\u9020\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u306e\u306b\u6a5f\u80fd\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u3068\u3044\u3046\u7279\u5fb4\u306f\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u3092\u793a\u3059\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LCA\u306f\u3001\u4e16\u754c\u3067\u51fa\u751f3\u4e07\u301c8\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u751f\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u5e7c\u5150\u671f\u306e\u5931\u660e\u306e\u539f\u56e0\u306e\u7d0420%\u3092\u5360\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4e2d\u3067LCA10\u306f\u3001\u5168\u4f53\u306e\u6700\u592730%\u3092\u5360\u3081\u308b\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002\u7279\u306b\u6b27\u7c73\u3067\u306f\u3001CEP290\u907a\u4f1d\u5b50\u306e\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\u300cc.2991+1655A&gt;G\uff08\u5225\u540d\uff1aIVS26\uff09\u300d\u304c\u591a\u304f\u898b\u3089\u308c\u3001\u30a2\u30e1\u30ea\u30ab\u3067\u306fLCA10\u60a3\u8005\u306e\u7d0477%\u306b\u3053\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u30a2\u30b8\u30a2\u5730\u57df\u3067\u306f\u4ed6\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3068\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u5730\u57df\u306b\u3088\u3063\u3066\u983b\u5ea6\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/smith-lemli-opitz-dhcr7-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3010DHCR7\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u4fdd\u8b77\u8005\u5411\u3051\u306e\u5b89\u5fc3\u3067\u304d\u308b\u60c5\u5831\u63d0\u4f9b\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LCA10\u306f\u3001CEP290\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u7531\u6765\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b63\u5e38\u306b\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u300c\u7dda\u6bdb\uff08cilia\uff09\u300d\u3068\u3044\u3046\u7d30\u80de\u8868\u9762\u306e\u5fae\u7d30\u306a\u7a81\u8d77\u306b\u5b58\u5728\u3057\u3001\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u306e\u5185\u3068\u5916\u306e\u90e8\u5206\u3092\u3064\u306a\u3050\u300c\u9023\u7d50\u7dda\u6bdb\uff08connecting cilium\uff09\u300d\u3067\u7279\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308b\u75c5\u7684\u5909\u7570\u306f\u300cc.2991+1655A&gt;G\u300d\u3067\u3001\u3053\u308c\u306f\u30a4\u30f3\u30c8\u30ed\u30f3\uff08DNA\u306e\u975e\u30b3\u30fc\u30c9\u9818\u57df\uff09\u306b\u65b0\u305f\u306a\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u3092\u4f5c\u308a\u3001\u901a\u5e38\u306f\u5b58\u5728\u3057\u306a\u3044\u300c\u507d\u306e\u30a8\u30af\u30bd\u30f3\uff08cryptic exon\uff09\u300d\u304cmRNA\u306b\u542b\u307e\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u9014\u4e2d\u3067\u5207\u308c\u3066\u3057\u307e\u3046\u4e0d\u5b8c\u5168\u306aCEP290\u30bf\u30f3\u30d1\u30af\u8cea\u3057\u304b\u4f5c\u3089\u308c\u305a\u3001\u5149\u53d7\u5bb9\u4f53\u306e\u50cd\u304d\u304c\u4fdd\u3066\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u7570\u5e38\u306f\u5168\u8eab\u306e\u7d30\u80de\u3067\u8d77\u3053\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u306b\u7db2\u819c\u3067\u9855\u8457\u306b\u8868\u308c\u307e\u3059\u3002\u305d\u306e\u7406\u7531\u306f\u3001CEP290\u306e\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\uff08RNA\u306e\u52a0\u5de5\uff09\u306e\u7570\u5e38\u304c\u7db2\u819c\u3067\u6700\u3082\u5f37\u304f\u5f71\u97ff\u3092\u53d7\u3051\u308b\u305f\u3081\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LCA10\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u751f\u5f8c\u3059\u3050\u306b\u898b\u3089\u308c\u308b\u8996\u899a\u969c\u5bb3\u3067\u3059\u3002\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u5ea6\u306e\u8996\u529b\u4f4e\u4e0b\u307e\u305f\u306f\u5168\u76f2<\/li>\n\n\n\n<li>\u773c\u632f\uff08nystagmus\uff09\uff1a\u76ee\u304c\u7121\u610f\u8b58\u306b\u5de6\u53f3\u306b\u52d5\u304f<\/li>\n\n\n\n<li>\u5bfe\u5149\u53cd\u5c04\u306e\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\uff08\u5149\u306b\u5bfe\u3057\u3066\u77b3\u5b54\u304c\u53cd\u5fdc\u3057\u306b\u304f\u3044\uff09<\/li>\n\n\n\n<li>\u5f37\u3044\u9060\u8996\uff08\u9ad8\u9060\u8996\uff1ahigh hyperopia\uff09<\/li>\n\n\n\n<li>\u7f9e\u660e\uff08photophobia\uff09\uff1a\u307e\u3076\u3057\u3055\u3092\u5f37\u304f\u611f\u3058\u308b<\/li>\n\n\n\n<li>\u89d2\u819c\u5186\u9310\u75c7\uff08keratoconus\uff09\uff1a\u89d2\u819c\u304c\u8584\u304f\u306a\u3063\u3066\u3068\u304c\u308b\u72b6\u614b<\/li>\n\n\n\n<li>\u773c\u7403\u81ea\u5df1\u523a\u6fc0\uff08Franceschetti\u306e\u773c\u6307\u75c7\u5019\uff1aoculo-digital sign\uff09\uff1a\u76ee\u3092\u62bc\u3057\u305f\u308a\u3053\u3059\u3063\u305f\u308a\u3059\u308b\u7656<\/li>\n\n\n\n<li>\u7269\u3092\u76ee\u3067\u8ffd\u3048\u306a\u3044\u3001\u8996\u7dda\u304c\u5408\u308f\u306a\u3044<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5168\u8eab\u75c7\u72b6\u3082\u898b\u3089\u308c\u307e\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u5c0f\u8133\u306e\u7570\u5e38\u3084\u904b\u52d5\u5931\u8abf\uff08Joubert\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li>\u814e\u81d3\u3084\u809d\u81d3\u306e\u7570\u5e38<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E7%A7%91%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span>\u773c\u79d1\u7684\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u96fb\u56f3\uff08ERG\uff1aElectroretinography\uff09\uff1a\u5149\u306b\u5bfe\u3059\u308b\u7db2\u819c\u306e\u53cd\u5fdc\u3092\u6e2c\u308b\u691c\u67fb\u3002LCA10\u3067\u306f\u307b\u307c\u7121\u53cd\u5fdc\u3002<\/li>\n\n\n\n<li>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff1aOptical Coherence Tomography\uff09\uff1a\u7db2\u819c\u306e\u69cb\u9020\u3092\u8a73\u3057\u304f\u898b\u308b\u753b\u50cf\u691c\u67fb\u3002\u4e2d\u5fc3\u7aa9\u69cb\u9020\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u5e95\u691c\u67fb\uff1a\u75c5\u6c17\u306e\u9032\u884c\u306b\u4f34\u3044\u3001\u7db2\u819c\u306b\u767d\u3044\u6591\u70b9\u3084\u8272\u7d20\u6c88\u7740\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u75be\u60a3\u306e\u30de\u30eb\u30c1\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306b\u3088\u308a\u3001CEP290\u306e\u7570\u5e38\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u75c5\u7684\u5909\u7570\uff08pathogenic variant\uff09\u306e\u78ba\u8a8d\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308c\u3070\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u3084\u81e8\u5e8a\u8a66\u9a13\u306e\u53c2\u52a0\u3001\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span>\u9451\u5225\u8a3a\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u75c5\u6c17\u3068\u533a\u5225\u304c\u5fc5\u8981\u3067\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8272\u899a\u7570\u5e38\u75c7\uff08Achromatopsia\uff09<\/li>\n\n\n\n<li>\u5148\u5929\u6027\u591c\u76f2\u75c7\uff08Congenital Stationary Night Blindness\uff09<\/li>\n\n\n\n<li>\u767d\u5b50\u75c7\uff08Albinism\uff09<\/li>\n\n\n\n<li>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Neuronal Ceroid Lipofuscinosis\uff09<\/li>\n\n\n\n<li>\u30bc\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08Zellweger Spectrum Disorder\uff09<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u30bf\u30a4\u30d73\u3010AGPS\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">RCDP3\u306fAGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u6975\u3081\u3066\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u9aa8\u30fb\u773c\u30fb\u795e\u7d4c\u30fb\u547c\u5438\u306a\u3069\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u539f\u56e0\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%8F%BE%E5%9C%A8%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span>\u73fe\u5728\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u306fLCA10\u306b\u5bfe\u3059\u308b\u6a19\u6e96\u7684\u306a\u6cbb\u7642\u6cd5\uff08\u6839\u672c\u7684\u6cbb\u7642\uff09\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u652f\u6301\u7684\u6cbb\u7642\u304c\u91cd\u8981\u3067\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u88dc\u52a9\u5177\u306e\u4f7f\u7528\uff08\u62e1\u5927\u93e1\u3084\u906e\u5149\u773c\u93e1\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u9060\u8996\u306e\u77ef\u6b63\uff08\u773c\u93e1\uff09<\/li>\n\n\n\n<li>\u5408\u4f75\u75c7\u306e\u7ba1\u7406\uff08\u5186\u9310\u89d2\u819c\u3084\u767d\u5185\u969c\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u5c0f\u5150\u306e\u767a\u9054\u652f\u63f4\uff08\u65e9\u671f\u7642\u80b2\u3001\u97f3\u3084\u89e6\u899a\u3092\u4f7f\u3063\u305f\u6559\u80b2\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%96%8B%E7%99%BA%E4%B8%AD%E3%81%AE%E6%B2%BB%E7%99%82%E6%B3%95\"><\/span>\u958b\u767a\u4e2d\u306e\u6cbb\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%82%A2%E3%83%B3%E3%83%81%E3%82%BB%E3%83%B3%E3%82%B9%E3%82%AA%E3%83%AA%E3%82%B4%E3%83%8C%E3%82%AF%E3%83%AC%E3%82%AA%E3%83%81%E3%83%89%E7%99%82%E6%B3%95%EF%BC%88AON_Antisense_Oligonucleotide%EF%BC%89\"><\/span>1. \u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7642\u6cd5\uff08AON: Antisense Oligonucleotide\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u30bb\u30dd\u30d5\u30a1\u30fc\u30bb\u30f3\uff08Sepofarsen \/ QR-110\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u507d\u306e\u30a8\u30af\u30bd\u30f3\u3092mRNA\u304b\u3089\u9664\u53bb\u3059\u308b\u3053\u3068\u3067\u3001\u6b63\u5e38\u306aCEP290\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u521d\u671f\u81e8\u5e8a\u8a66\u9a13\u3067\u306f\u8996\u529b\uff08BCVA\uff09\u306e\u6539\u5584\u3084\u79fb\u52d5\u80fd\u529b\u306e\u5411\u4e0a\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e3b\u306a\u526f\u4f5c\u7528\u306f\u767d\u5185\u969c\u3067\u3057\u305f\u304c\u3001\u624b\u8853\u3067\u6539\u5584\u53ef\u80fd\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%82%B2%E3%83%8E%E3%83%A0%E7%B7%A8%E9%9B%86%EF%BC%88CRISPR-Cas9%EF%BC%89\"><\/span>2. \u30b2\u30ce\u30e0\u7de8\u96c6\uff08CRISPR-Cas9\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>EDIT-101\uff08\u30a8\u30c7\u30a3\u30c3\u30c8101\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\uff08c.2991+1655A&gt;G\uff09\u3092\u30b2\u30ce\u30e0\u4e0a\u304b\u3089\u76f4\u63a5\u524a\u9664\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u305f\u6cbb\u7642\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\uff08AAV5\uff09\u3092\u7528\u3044\u3066\u7db2\u819c\u5185\u306b\u76f4\u63a5\u6ce8\u5165\u3055\u308c\u307e\u3059\uff08\u7db2\u819c\u4e0b\u6295\u4e0e\uff09\u3002<\/li>\n\n\n\n<li>\u521d\u671f\u306e\u81e8\u5e8a\u8a66\u9a13\u3067\u306f\u3001\u5b89\u5168\u6027\u306b\u554f\u984c\u306f\u306a\u304f\u3001\u8996\u529b\u3001\u5149\u611f\u53d7\u6027\u3001\u79fb\u52d5\u80fd\u529b\u3001\u751f\u6d3b\u306e\u8cea\u306a\u3069\u8907\u6570\u306e\u6307\u6a19\u3067\u6539\u5584\u304c\u898b\u3089\u308c\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u5b50\u3069\u3082\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u3088\u308a\u5927\u304d\u306a\u6539\u5584\u304c\u898b\u3089\u308c\u305f\u3053\u3068\u304b\u3089\u3001\u65e9\u671f\u6cbb\u7642\u304c\u52b9\u679c\u7684\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LCA10\u306f\u3001\u6cbb\u7642\u3057\u306a\u3051\u308c\u3070\u751f\u6daf\u306b\u308f\u305f\u308b\u91cd\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4e2d\u5fc3\u7db2\u819c\u306e\u69cb\u9020\u304c\u9577\u671f\u9593\u4fdd\u305f\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u6cbb\u7642\u4ecb\u5165\u306e\u30c1\u30e3\u30f3\u30b9\u304c\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u5f8c\u306f\u4ee5\u4e0b\u306e\u8981\u56e0\u306b\u3088\u308a\u5909\u308f\u308a\u307e\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5909\u7570\u306e\u7a2e\u985e\uff08\u7121\u6a5f\u80fd\u578b\u5909\u7570\u304c\u3042\u308b\u3068\u3088\u308a\u91cd\u75c7\u5316\uff09<\/li>\n\n\n\n<li>\u6cbb\u7642\u306e\u958b\u59cb\u6642\u671f\uff08\u65e9\u671f\u6cbb\u7642\u307b\u3069\u52b9\u679c\u304c\u9ad8\u3044\uff09<\/li>\n\n\n\n<li>\u5168\u8eab\u75c7\u72b6\u306e\u6709\u7121\uff08Joubert\u75c7\u5019\u7fa4\u306a\u3069\u3092\u4f34\u3046\u5834\u5408\u306f\u5168\u8eab\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u5bb6\u65cf\u306b\u5bfe\u3057\u3066\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff09\u3082\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u3088\u3046\u306a\u60c5\u5831\u304c\u8a70\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u89aa\u304b\u3089\u5b50\u306b\u53d7\u3051\u7d99\u304c\u308c\u3001\u4f53\u306e\u4e2d\u306e\u50cd\u304d\u3092\u6c7a\u3081\u308b\u5927\u5207\u306a\u8981\u7d20\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u5909\u5316\uff08Gene Mutation\uff09<\/strong><strong><br><\/strong> \u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u306b\u5909\u5316\uff08\u3078\u3093\u304b\uff09\u304c\u8d77\u3053\u3063\u305f\u72b6\u614b\u3067\u3059\u3002\u3053\u306e\u5909\u5316\u306b\u3088\u308a\u3001\u4f53\u306e\u4e2d\u3067\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CEP290\uff08\u30bb\u30f3\u30c8\u30ed\u30bd\u30fc\u30e0\u305f\u3093\u3071\u304f\u8cea290\uff09<\/strong><strong><br><\/strong> \u76ee\u306e\u5149\u3092\u611f\u3058\u308b\u7d30\u80de\u306e\u4e2d\u3067\u50cd\u304f\u305f\u3093\u3071\u304f\u8cea\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u8996\u529b\u306b\u95a2\u308f\u308b\u7d30\u80de\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<br><\/strong> \u4e21\u89aa\u306e\u4e21\u65b9\u304b\u3089\u540c\u3058\u907a\u4f1d\u5b50\u306b\u95a2\u3059\u308b\u5909\u5316\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u75c7\u72b6\u304c\u51fa\u308b\u907a\u4f1d\u306e\u3057\u304f\u307f\u3067\u3059\u3002\u4e21\u89aa\u306b\u306f\u75c7\u72b6\u304c\u306a\u304f\u3001\u6c17\u3065\u304b\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u7a81\u7136\u306e\u8a3a\u65ad\u306b\u9a5a\u304b\u308c\u308b\u65b9\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\uff08Retina\uff09<\/strong><strong><br><\/strong> \u76ee\u306e\u5965\u306b\u3042\u308b\u3001\u5149\u3092\u611f\u3058\u3066\u8133\u306b\u6620\u50cf\u3092\u4f1d\u3048\u308b\u5834\u6240\u3067\u3059\u3002\u30ab\u30e1\u30e9\u3067\u3044\u3046\u300c\u30d5\u30a3\u30eb\u30e0\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\uff08Photoreceptor Cells\uff09<\/strong><strong><br><\/strong> \u7db2\u819c\u306e\u4e2d\u306b\u3042\u308b\u3001\u5149\u3092\u30ad\u30e3\u30c3\u30c1\u3059\u308b\u7279\u5225\u306a\u7d30\u80de\u3067\u3059\u3002\u3053\u308c\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3068\u3001\u3082\u306e\u3092\u898b\u308b\u529b\u304c\u5f31\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7dda\u6bdb\uff08Cilia\uff09<\/strong><strong><br><\/strong> \u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308b\u5c0f\u3055\u306a\u6bdb\u306e\u3088\u3046\u306a\u90e8\u5206\u3067\u3001\u4f53\u306e\u4e2d\u306e\u60c5\u5831\u3092\u4f1d\u3048\u305f\u308a\u7269\u8cea\u3092\u904b\u3093\u3060\u308a\u3059\u308b\u50cd\u304d\u3092\u3057\u307e\u3059\u3002\u76ee\u306e\u4e2d\u3067\u306f\u5149\u3092\u611f\u3058\u308b\u7d30\u80de\u306e\u50cd\u304d\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>LCA\uff08Leber\u5148\u5929\u9ed2\u5185\u969c\uff1aLeber Congenital Amaurosis\uff09<\/strong><strong><br><\/strong> \u751f\u307e\u308c\u3064\u304d\u3001\u307e\u305f\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u8996\u529b\u304c\u3068\u3066\u3082\u5f31\u3044\u75c5\u6c17\u306e\u3053\u3068\u3067\u3059\u3002\u5149\u3092\u611f\u3058\u308b\u7d30\u80de\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>LCA10<\/strong><strong><br><\/strong> LCA\u306e\u4e2d\u3067\u3082\u3001CEP290\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308bLCA\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u969c\u5bb3\uff08Visual Impairment\uff09<\/strong><strong><br><\/strong> \u76ee\u304c\u3088\u304f\u898b\u3048\u306a\u3044\u72b6\u614b\u306e\u3053\u3068\u3067\u3059\u3002\u75c7\u72b6\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u5c11\u3057\u898b\u3048\u306b\u304f\u3044\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u5149\u3060\u3051\u3092\u611f\u3058\u308b\u72b6\u614b\u306e\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u632f\uff08Nystagmus\uff09<\/strong><strong><br><\/strong> \u76ee\u304c\u52dd\u624b\u306b\u5de6\u53f3\u306b\u63fa\u308c\u308b\u52d5\u304d\u306e\u3053\u3068\u3067\u3059\u3002\u672c\u4eba\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bfe\u5149\u53cd\u5fdc\uff08Pupillary Light Reflex\uff09<\/strong><strong><br><\/strong> \u76ee\u306b\u5149\u3092\u5f53\u3066\u305f\u3068\u304d\u306b\u3001\u77b3\u5b54\uff08\u3072\u3068\u307f\uff09\u304c\u5c0f\u3055\u304f\u306a\u308b\u53cd\u5fdc\u306e\u3053\u3068\u3067\u3059\u3002LCA10\u3067\u306f\u3053\u306e\u53cd\u5fdc\u304c\u5f31\u3044\u304b\u3001\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u9060\u8996\uff08Hyperopia\uff09<\/strong><strong><br><\/strong> \u9060\u304f\u306f\u898b\u3048\u3084\u3059\u3044\u3051\u308c\u3069\u3001\u8fd1\u304f\u304c\u898b\u3048\u3065\u3089\u3044\u76ee\u306e\u72b6\u614b\u3067\u3059\u3002\u8996\u529b\u306b\u5927\u304d\u304f\u95a2\u4fc2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7f9e\u660e\uff08Photophobia\uff09<\/strong><strong><br><\/strong> \u5149\u304c\u307e\u3076\u3057\u304f\u3066\u3064\u3089\u304f\u611f\u3058\u308b\u75c7\u72b6\u3067\u3059\u3002\u660e\u308b\u3044\u5834\u6240\u306b\u3044\u308b\u3068\u4e0d\u5feb\u306b\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89d2\u819c\u5186\u9310\u75c7\uff08Keratoconus\uff09<\/strong><strong><br><\/strong> \u9ed2\u76ee\u306e\u8868\u9762\uff08\u89d2\u819c\uff09\u304c\u5c11\u3057\u305a\u3064\u8584\u304f\u306a\u308a\u3001\u3068\u304c\u3063\u3066\u304f\u308b\u75c5\u6c17\u3067\u3059\u3002\u8996\u754c\u304c\u3086\u304c\u3093\u3067\u898b\u3048\u305f\u308a\u3001\u3082\u306e\u304c\u306f\u3063\u304d\u308a\u898b\u3048\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u6307\u75c7\u5019\uff08Oculo-Digital Sign\uff09<\/strong><strong><br><\/strong> \u76ee\u3092\u62bc\u3057\u305f\u308a\u3053\u3059\u3063\u305f\u308a\u3059\u308b\u7656\u306e\u3053\u3068\u3067\u3059\u3002\u8996\u899a\u523a\u6fc0\u3092\u6c42\u3081\u308b\u884c\u52d5\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u96fb\u56f3\uff08ERG\uff1aElectroretinography\uff09<\/strong><strong><br><\/strong> \u7db2\u819c\u304c\u5149\u306b\u3069\u306e\u3088\u3046\u306b\u53cd\u5fdc\u3059\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002LCA10\u3067\u306f\u53cd\u5fdc\u304c\u307b\u3068\u3093\u3069\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff1aOptical Coherence Tomography\uff09<\/strong><strong><br><\/strong> \u7db2\u819c\u306e\u5f62\u3084\u539a\u307f\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u76ee\u306e\u4e2d\u306e\u69cb\u9020\u304c\u3069\u308c\u304f\u3089\u3044\u4fdd\u305f\u308c\u3066\u3044\u308b\u304b\u3092\u898b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08Genetic Testing\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u4e2d\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u75c5\u6c17\u306e\u539f\u56e0\u3092\u7279\u5b9a\u3057\u3001\u5c06\u6765\u306e\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3092\u5e83\u3052\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7642\u6cd5\uff08Antisense Oligonucleotide Therapy\uff09<\/strong><strong><br><\/strong> \u907a\u4f1d\u5b50\u306e\u50cd\u304d\u306b\u95a2\u3059\u308b\u30a8\u30e9\u30fc\u3092\u4fee\u6b63\u3059\u308b\u305f\u3081\u306e\u65b0\u3057\u3044\u85ac\u306e\u65b9\u6cd5\u3067\u3059\u3002\u76ee\u306e\u4e2d\u306b\u6ce8\u5c04\u3057\u3066\u4f7f\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b2\u30ce\u30e0\u7de8\u96c6\uff08Genome Editing\uff09<\/strong><strong><br><\/strong> \u6b63\u3057\u304f\u50cd\u304b\u306a\u3044\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u3092\u5207\u308a\u53d6\u308a\u3001\u6b63\u5e38\u306b\u8fd1\u3065\u3051\u308b\u305f\u3081\u306e\u6700\u5148\u7aef\u306e\u6cbb\u7642\u6cd5\u3067\u3059\u3002CRISPR\uff08\u30af\u30ea\u30b9\u30d1\u30fc\uff09\u3068\u3044\u3046\u6280\u8853\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b5\u30d6\u30ec\u30c6\u30a3\u30ca\u30eb\u6ce8\u5c04\uff08Subretinal Injection\uff09<\/strong><strong><br><\/strong> \u7db2\u819c\u306e\u4e0b\u306b\u85ac\u3084\u907a\u4f1d\u5b50\u3092\u5c4a\u3051\u308b\u65b9\u6cd5\u3067\u3059\u3002\u624b\u8853\u306e\u3088\u3046\u306b\u3057\u3066\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u8a66\u9a13\uff08Clinical Trial\uff09<\/strong><strong><br><\/strong> \u65b0\u3057\u3044\u6cbb\u7642\u304c\u5b89\u5168\u3067\u52b9\u679c\u304c\u3042\u308b\u304b\u3092\u78ba\u304b\u3081\u308b\u305f\u3081\u306b\u3001\u5b9f\u969b\u306e\u60a3\u8005\u3055\u3093\u306b\u3054\u5354\u529b\u3044\u305f\u3060\u304f\u5927\u5207\u306a\u7814\u7a76\u3067\u3059\u3002\u533b\u5e2b\u306e\u3082\u3068\u3067\u614e\u91cd\u306b\u884c\u308f\u308c\u3001\u5c06\u6765\u306e\u6cbb\u7642\u6cd5\u3092\u3072\u3089\u304f\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e88\u5f8c\uff08Prognosis\uff09<\/strong><strong><br><\/strong> \u4eca\u5f8c\u306e\u898b\u901a\u3057\u306e\u3053\u3068\u3067\u3059\u3002\u6cbb\u7642\u3057\u306a\u304b\u3063\u305f\u5834\u5408\u306e\u9032\u884c\u3084\u3001\u6cbb\u7642\u3067\u3069\u308c\u304f\u3089\u3044\u826f\u304f\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u304b\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff08Genetic Counseling\uff09<\/strong><br> \u5bb6\u65cf\u3084\u5b50\u3069\u3082\u306e\u5c06\u6765\u306e\u305f\u3081\u306b\u3001\u907a\u4f1d\u306b\u3064\u3044\u3066\u306e\u8aac\u660e\u3084\u76f8\u8ac7\u3092\u3059\u308b\u5c02\u9580\u7684\u306a\u652f\u63f4\u3067\u3059\u3002\u4e0d\u5b89\u3084\u7591\u554f\u3092\u6574\u7406\u3059\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11389875\/\">Pierce EA, Aleman TS, Jayasundera KT, Ashimatey BS, Kim K, Rashid A, Jaskolka MC, Myers RL, Lam BL, Bailey ST, Comander JI, Lauer AK, Maguire AM, Pennesi ME. Gene Editing for <em>CEP290<\/em>-Associated Retinal Degeneration. N Engl J Med. 2024 Jun 6;390(21):1972-1984. doi: 10.1056\/NEJMoa2309915. Epub 2024 May 6. PMID: 38709228; PMCID: PMC11389875.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK531510\/\">Kumaran N, Pennesi ME, Yang P, et al. Leber Congenital Amaurosis&nbsp;\/ Early-Onset Severe Retinal Dystrophy Overview. 2018 Oct 4 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK531510\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/IAE.0000000000003133\">Leroy, Bart P., et al. \u2018LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS\u2014SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review\u2019. <em>Retina<\/em>, vol. 41, no. 5, May 2021, pp. 898\u2013907. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1097\/IAE.0000000000003133.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.14744\/bej.2023.37233\">Sahli, Esra. \u2018A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay\u2019. <em>Beyoglu Eye Journal<\/em>, 2023, pp. 226\u201332. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.14744\/bej.2023.37233.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes12081261\">Huang, Chu-Hsuan, et al. \u2018Leber\u2019s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations\u2019. <em>Genes<\/em>, vol. 12, no. 8, Aug. 2021, p. 1261. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/genes12081261.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ebiom.2021.103360\">Chen, Holly. Y., et al. \u2018Genetics and Therapy for Pediatric Eye Diseases\u2019. <em>EBioMedicine<\/em>, vol. 67, May 2021, p. 103360. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.ebiom.2021.103360.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1136\/bjophthalmol-2020-318483\">Daich Varela, M., Cabral de Guimaraes, T. A., Georgiou, M., &amp; Michaelides, M. (2022). Leber congenital amaurosis\/early-onset severe retinal dystrophy: Current management and clinical trials. British Journal of Ophthalmology, 106(4), 445\u2013451. https:\/\/doi.org\/10.1136\/bjophthalmol-2020-318483<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>Leber\u5148\u5929\u9ed2\u5185\u969c, LCA10, CEP290, \u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u907a\u4f1d\u6027\u8996\u899a\u969c\u5bb3, c.2991+1655A&gt;G, IVS26, \u507d\u306e\u30a8\u30af\u30bd\u30f3, \u5149\u53d7\u5bb9\u4f53, \u9ad8\u9060\u8996, \u773c\u632f, \u7db2\u819c\u96fb\u56f3, OCT, \u30b2\u30ce\u30e0\u7de8\u96c6, CRISPR, Sepofarsen, EDIT-101, Joubert\u75c7\u5019\u7fa4, \u8996\u899a\u88dc\u52a9\u5177, \u5c0f\u5150\u5931\u660e, \u81e8\u5e8a\u8a66\u9a13, \u907a\u4f1d\u5b50\u6cbb\u7642<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": [\"MedicalCondition\", \"Article\"],\n  \"name\": \"Leber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\",\n  \"alternateName\": \"Leber Congenital Amaurosis, Type CEP290\",\n  \"headline\": \"Leber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u306e\u3084\u3055\u3057\u3044\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": \"Leber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u306f\u3001CEP290\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u751f\u307e\u308c\u3064\u304d\u8996\u529b\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3059\u308b\u907a\u4f1d\u6027\u306e\u7db2\u819c\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30fb\u7814\u7a76\u306e\u73fe\u72b6\u306b\u3064\u3044\u3066\u3001\u533b\u7642\u5f93\u4e8b\u8005\u3068\u4e00\u822c\u306e\u3054\u5bb6\u65cf\u5411\u3051\u306b\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\",\n  \"datePublished\": \"2025-06-17\",\n  \"inLanguage\": \"ja\",\n\n  \"cause\": {\n    \"@type\": \"MedicalCause\",\n    \"name\": \"CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\"\n  },\n\n  \"possibleTreatment\": {\n    \"@type\": \"MedicalTherapy\",\n    \"name\": \"\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7642\u6cd5\u3001CRISPR-Cas9\u306b\u3088\u308b\u30b2\u30ce\u30e0\u7de8\u96c6\u306a\u3069\u306e\u7814\u7a76\u7684\u6cbb\u7642\"\n  },\n\n  \"symptom\": [\n    \"\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3\",\n    \"\u773c\u632f\uff08\u76ee\u306e\u63fa\u308c\uff09\",\n    \"\u9ad8\u9060\u8996\uff08\u5f37\u3044\u9060\u8996\uff09\",\n    \"\u5bfe\u5149\u53cd\u5fdc\u306e\u4f4e\u4e0b\",\n    \"\u7f9e\u660e\uff08\u5149\u306b\u654f\u611f\u306b\u306a\u308b\uff09\"\n  ],\n\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\"\n  },\n\n  \"author\": {\n    \"@type\": \"Person\",\n    \"name\": \"HUMEDIT Contents Team\"\n  },\n\n  \"publisher\": {\n    \"@type\": \"Organization\",\n    \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n    \"url\": \"https:\/\/www.hiro-clinic.or.jp\",\n    \"logo\": {\n      \"@type\": \"ImageObject\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/logo.png\"\n    }\n  }\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 \u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u300cLeb&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[],"class_list":["post-101541","post","type-post","status-publish","format-standard","hentry","category-treatise"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101541","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=101541"}],"version-history":[{"count":13,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101541\/revisions"}],"predecessor-version":[{"id":127997,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101541\/revisions\/127997"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=101541"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=101541"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=101541"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}