{"id":112056,"date":"2025-06-17T12:37:41","date_gmt":"2025-06-17T03:37:41","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/"},"modified":"2025-10-16T12:10:43","modified_gmt":"2025-10-16T03:10:43","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\/?lang=zh-hans","title":{"rendered":"CEP290\u76f8\u5173Leber\u5148\u5929\u6027\u9ed1\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<p>\u672c\u9875\u9762\u5c06\u4e3a\u60a8\u63d0\u4f9b\u5173\u4e8e<strong>Leber\u5148\u5929\u6027\u9ed1\u5185\u969c10\u578b\uff08LCA10\uff09\u7684\u6613\u61c2\u89e3\u91ca\uff0c\u8fd9\u662f\u4e00\u79cd\u4ece\u51fa\u751f\u65f6\u89c6\u529b\u5c31\u975e\u5e38\u5f31\u5e76\u6301\u7eed\u4e0b\u53bb\u7684\u773c\u75c5\uff0c\u7279\u522b\u5173\u6ce8\u7531CEP290<\/strong>\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684LCA\u7c7b\u578b\u3002<\/p>\n\n\n\n<p>\u6211\u4eec\u5c06\u4ecb\u7ecd\u4ee5\u4e0b\u5185\u5bb9\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8fd9\u79cd\u75be\u75c5\u662f\u5982\u4f55\u53d1\u751f\u7684<br><\/li>\n\n\n\n<li>\u5b58\u5728\u7684\u75c7\u72b6<br><\/li>\n\n\n\n<li>\u5982\u4f55\u8bca\u65ad<br><\/li>\n\n\n\n<li>\u5f53\u524d\u6cbb\u7597\u65b9\u6cd5\u53ca\u7814\u7a76\u8fdb\u5c55<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u5185\u5bb9\u4e0d\u4ec5\u9488\u5bf9\u533b\u7597\u4eba\u5458\uff0c\u4e5f\u5e2e\u52a9\u5bb6\u5ead\u548c\u516c\u4f17\u66f4\u597d\u5730\u7406\u89e3\u6b64\u75c5\uff0c\u63d0\u4f9b\u6709\u5173\u5b69\u5b50\u672a\u6765\u7684\u91cd\u8981\u4fe1\u606f\uff0c\u5e0c\u671b\u80fd\u4e3a\u60a8\u7684\u5bb6\u4eba\u63d0\u4f9b\u5e2e\u52a9\u3002<\/p>\n\n\n\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\/?lang=zh-hans\/#%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\" >\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0\u533a\u57df<\/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\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0_%E7%96%BE%E7%97%85\" >\u75be\u75c5\u540d\u79f0 | \u75be\u75c5<\/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\/?lang=zh-hans\/#%E6%A6%82%E8%BF%B0_%E6%A6%82%E8%A6%81\" >\u6982\u8ff0 | \u6982\u8981<\/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\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6_%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\" >\u6d41\u884c\u75c5\u5b66 | \u6d41\u884c\u75c5\u5b66<\/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\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0_%E7%97%85%E5%9B%A0\" >\u75c5\u56e0 | \u75c5\u56e0<\/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\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6_%E7%97%87%E7%8A%B6\" >\u75c7\u72b6 | \u75c7\u72b6<\/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\/?lang=zh-hans\/#%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD_%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD\" >\u68c0\u67e5\u4e0e\u8bca\u65ad | \u68c0\u67e5\u4e0e\u8bca\u65ad<\/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\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86_%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u6cbb\u7597\u4e0e\u7ba1\u7406 | \u6cbb\u7597\u4e0e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E_%E9%A2%84%E5%90%8E\" >\u9884\u540e | \u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/?lang=zh-hans\/#%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD_%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD\" >\u6709\u7528\u672f\u8bed | \u6709\u7528\u672f\u8bed<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/?lang=zh-hans\/#%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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/?lang=zh-hans\/#%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 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\"><\/span><strong>\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0\u533a\u57df<\/strong><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><strong>Leber\u5148\u5929\u6027\u9ed1\u5185\u969c10\u578b\uff08LCA10\uff09\u7531CEP290\uff08\u4e2d\u5fc3\u5c0f\u4f53\u86cb\u767d290\uff09\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u3002\u8be5\u57fa\u56e0\u4f4d\u4e8e\u4eba\u7c7b\u7b2c12\u53f7\u67d3\u8272\u4f53\u7684\u957f\u81c212q21.32<\/strong>\u4f4d\u7f6e\uff0c\u57fa\u56e0\u957f\u5ea6\u5927\u7ea6\u4e3a93,000\u4e2a\u78b1\u57fa\u5bf9\u3002<\/p>\n\n\n\n<p><strong>CEP290<\/strong>\u57fa\u56e0\u7f16\u7801\u7684\u86cb\u767d\u8d28\u4e0e\u7ec6\u80de\u4e2d\u7684\u201c\u4e2d\u5fc3\u5c0f\u4f53\u201d\u548c\u201c\u7ea4\u6bdb\u201d\u8fd9\u4e9b\u5fae\u5c0f\u7ed3\u6784\u76f8\u5173\uff0c\u5c24\u5176\u5728\u773c\u775b\u7684\u201c\u5149\u53d7\u4f53\u7ec6\u80de\u201d\u4e2d\u5177\u6709\u91cd\u8981\u4f5c\u7528\u3002\u5149\u53d7\u4f53\u7ec6\u80de\u662f\u611f\u77e5\u5149\u7ebf\u5e76\u5c06\u4fe1\u53f7\u4f20\u9001\u5230\u5927\u8111\u7684\u7ec6\u80de\uff0c\u76f4\u63a5\u5173\u7cfb\u5230\u89c6\u529b\u3002<\/p>\n\n\n\n<p><strong>CEP290<\/strong>\u57fa\u56e0\u8fd8\u6709\u591a\u4e2a\u522b\u540d\uff0c\u5728\u7814\u7a76\u6587\u732e\u4e2d\u53ef\u80fd\u4f1a\u770b\u5230<strong>KIAA0373<\/strong>\u3001<strong>LCA10<\/strong>\u3001<strong>JBTS5<\/strong>\u3001<strong>BBS14<\/strong>\u3001<strong>NPHP6<\/strong>\u7b49\u540d\u79f0\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0_%E7%96%BE%E7%97%85\"><\/span><strong>\u75be\u75c5\u540d\u79f0 | \u75be\u75c5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd9\u79cd\u75be\u75c5\u79f0\u4e3a<strong>Leber\u5148\u5929\u6027\u9ed1\u5185\u969c10\u578b\uff08LCA10\uff09<\/strong>\u3002<strong>LCA<\/strong>\u662f**Leber\u5148\u5929\u6027\u9ed1\u5185\u969c\uff08Leber Congenital Amaurosis\uff09**\u7684\u7f29\u5199\uff0c\u6307\u7684\u662f\u4e00\u79cd\u4ece\u51fa\u751f\u65f6\u6216\u5a74\u513f\u671f\u65e9\u671f\u5c31\u8868\u73b0\u4e3a\u4e25\u91cd\u89c6\u529b\u969c\u788d\u7684\u7f51\u819c\u75c5\u3002<strong>LCA10<\/strong>\u662f\u6307\u7531<strong>CEP290<\/strong>\u57fa\u56e0\u5f02\u5e38\u5f15\u8d77\u7684LCA\u7c7b\u578b\u3002\u5176\u7279\u5f81\u662f\u4ece\u51fa\u751f\u8d77\u5373\u8868\u73b0\u51fa\u4e25\u91cd\u7684\u89c6\u529b\u969c\u788d\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0_%E6%A6%82%E8%A6%81\"><\/span><strong>\u6982\u8ff0 | \u6982\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;<strong>Leber\u5148\u5929\u6027\u9ed1\u5185\u969c\uff08LCA\uff09\u662f\u4e00\u4e2a\u7531\u9057\u4f20\u6027\u5f15\u8d77\u7684\u4e25\u91cd\u89c6\u529b\u969c\u788d\u7fa4\u4f53\uff0c\u901a\u5e38\u5728\u51fa\u751f\u540e\u7acb\u5373\u8bca\u65ad\uff0c\u4e14\u4e3b\u8981\u5f71\u54cd\u773c\u775b\u7684\u89c6\u7f51\u819c\uff08\u8d1f\u8d23\u611f\u5149\u7684\u773c\u5185\u819c\uff09\u3002LCA10\u662f\u5176\u4e2d\u6700\u5e38\u89c1\u7684\u9057\u4f20\u4e9a\u578b\u4e4b\u4e00\uff0c\u7531CEP290<\/strong>\u57fa\u56e0\u7684\u7a81\u53d8\u5f15\u8d77\u3002<\/p>\n\n\n\n<p>\u5728<strong>LCA10<\/strong>\u4e2d\uff0c\u773c\u775b\u7684\u7ed3\u6784\uff08\u5c24\u5176\u662f\u773c\u775b\u7684\u4e2d\u5fc3\u533a\u57df\u2014\u2014<strong>\u4e2d\u592e\u51f9\uff08fovea\uff09<\/strong>\uff09\u901a\u5e38\u5f97\u4ee5\u4fdd\u6301\uff0c\u4f46\u529f\u80fd\u6027\u89c6\u529b\u975e\u5e38\u4f4e\u3002\u8fd9\u79cd\u60c5\u51b5\u4e2d\uff0c\u867d\u7136\u7ed3\u6784\u4fdd\u6301\u826f\u597d\uff0c\u4f46\u529f\u80fd\u4e27\u5931\uff0c\u8fd9\u4e3a\u672a\u6765\u7684\u6cbb\u7597\u63d0\u4f9b\u4e86\u91cd\u8981\u7684\u7ebf\u7d22\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6_%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\"><\/span><strong>\u6d41\u884c\u75c5\u5b66 | \u6d41\u884c\u75c5\u5b66<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>LCA<\/strong>\u7684\u53d1\u75c5\u7387\u5927\u7ea6\u662f\u6bcf30,000\u523080,000\u4e2a\u65b0\u751f\u513f\u4e2d\u5c31\u67091\u4f8b\uff0c\u7ea6\u5360\u513f\u7ae5\u5931\u660e\u768420%\u3002<\/p>\n\n\n\n<p>\u5176\u4e2d\uff0c<strong>LCA10<\/strong>\u662f\u6700\u5e38\u89c1\u7684\u7c7b\u578b\uff0c\u5360\u6240\u6709LCA\u75c5\u4f8b\u7684\u6700\u592730%\u3002\u7279\u522b\u662f\u5728\u6b27\u7f8e\uff0c<strong>CEP290<\/strong>\u57fa\u56e0\u7684\u6df1\u5c42\u5185\u542b\u5b50\u53d8\u5f02<strong>c.2991+1655A&gt;G\uff08\u4e5f\u53ebIVS26\uff09\u8f83\u4e3a\u5e38\u89c1\uff0c\u5728\u7f8e\u56fd\u7ea677%\u7684LCA10<\/strong>\u60a3\u8005\u4e2d\u53d1\u73b0\u4e86\u8fd9\u79cd\u53d8\u5f02\u3002<\/p>\n\n\n\n<p>\u800c\u5728\u4e9a\u6d32\u5730\u533a\uff0c\u901a\u5e38\u7531\u5176\u4ed6\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\uff0c\u4e14\u5728\u4e0d\u540c\u5730\u533a\u7684\u53d1\u75c5\u9891\u7387\u6709\u6240\u4e0d\u540c\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_%E7%97%85%E5%9B%A0\"><\/span><strong>\u75c5\u56e0 | \u75c5\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>L<strong>LCA10<\/strong>\u7531<strong>CEP290<\/strong>\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\uff0c\u8be5\u57fa\u56e0\u7684\u86cb\u767d\u8d28\u5728\u7ec6\u80de\u8868\u9762\u5fae\u5c0f\u7684<strong>\u7ea4\u6bdb<\/strong>\u7ed3\u6784\u4e2d\u53d1\u6325\u91cd\u8981\u4f5c\u7528\uff0c\u5c24\u5176\u5728\u8fde\u63a5\u5149\u53d7\u4f53\u7ec6\u80de\u7684\u5185\u5916\u90e8\u5206\u7684\u201c\u8fde\u63a5\u7ea4\u6bdb\u201d\u4e2d\u8d77\u5173\u952e\u4f5c\u7528\u3002<\/p>\n\n\n\n<p>\u6700\u5e38\u89c1\u7684\u75c5\u7406\u7a81\u53d8\u662f<strong>c.2991+1655A&gt;G<\/strong>\uff0c\u5b83\u5728\u5185\u542b\u5b50\uff08DNA\u7684\u975e\u7f16\u7801\u533a\u57df\uff09\u4e2d\u521b\u9020\u4e86\u65b0\u7684\u526a\u63a5\u4f4d\u70b9\uff0c\u5bfc\u81f4mRNA\u4e2d\u51fa\u73b0\u201c\u9690\u6027\u5916\u663e\u5b50\uff08cryptic exon\uff09\u201d\u3002\u7ed3\u679c\uff0c\u4ea7\u751f\u7684<strong>CEP290<\/strong>\u86cb\u767d\u4e0d\u5b8c\u6574\uff0c\u65e0\u6cd5\u7ef4\u6301\u5149\u53d7\u4f53\u7684\u6b63\u5e38\u529f\u80fd\u3002<\/p>\n\n\n\n<p>\u8fd9\u79cd\u5f02\u5e38\u53ef\u80fd\u5728\u5168\u8eab\u7ec6\u80de\u4e2d\u53d1\u751f\uff0c\u4f46\u5728\u89c6\u7f51\u819c\u4e2d\u5c24\u4e3a\u663e\u8457\uff0c\u56e0\u4e3a<strong>CEP290<\/strong>\u57fa\u56e0\u7684\u526a\u63a5\u5f02\u5e38\u5bf9\u89c6\u7f51\u819c\u7684\u5f71\u54cd\u6700\u5927\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_%E7%97%87%E7%8A%B6\"><\/span><strong>\u75c7\u72b6 | \u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>LCA10<\/strong>\u7684\u4e3b\u8981\u75c7\u72b6\u662f\u4ece\u51fa\u751f\u65f6\u5373\u51fa\u73b0\u7684\u4e25\u91cd\u89c6\u529b\u969c\u788d\uff0c\u5177\u6709\u4ee5\u4e0b\u7279\u70b9\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e25\u91cd\u89c6\u529b\u4e0b\u964d\u6216\u5931\u660e<br><\/li>\n\n\n\n<li><strong>\u773c\u9707\uff08Nystagmus\uff09<\/strong>\uff1a\u773c\u775b\u4e0d\u81ea\u89c9\u5730\u5de6\u53f3\u6446\u52a8<br><\/li>\n\n\n\n<li>\u5bf9\u5149\u53cd\u5c04\u4e0b\u964d\u6216\u6d88\u5931\uff08\u77b3\u5b54\u5bf9\u5149\u53cd\u5e94\u5f31\u6216\u6d88\u5931\uff09<br><\/li>\n\n\n\n<li>\u4e25\u91cd\u8fdc\u89c6\uff08\u9ad8\u8fdc\u89c6\uff09<br><\/li>\n\n\n\n<li><strong>\u5149\u754f\uff08Photophobia\uff09<\/strong>\uff1a\u5bf9\u5149\u7ebf\u6781\u5ea6\u654f\u611f<br><\/li>\n\n\n\n<li><strong>\u5706\u9525\u89d2\u819c\uff08Keratoconus\uff09<\/strong>\uff1a\u89d2\u819c\u53d8\u8584\u5e76\u5448\u9525\u5f62<br><\/li>\n\n\n\n<li><strong>\u773c\u6307\u75c7\uff08Franceschetti\u7684\u773c\u6307\u75c7\uff09<\/strong>\uff1a\u559c\u6b22\u6309\u538b\u6216\u63c9\u773c\u775b\u7684\u884c\u4e3a<br><\/li>\n\n\n\n<li>\u65e0\u6cd5\u7528\u773c\u775b\u8ffd\u8e2a\u7269\u4f53\uff0c\u65e0\u6cd5\u5bf9\u89c6<br><\/li>\n<\/ul>\n\n\n\n<p>\u90e8\u5206\u60a3\u8005\u8fd8\u4f1a\u6709\u4ee5\u4e0b\u5168\u8eab\u75c7\u72b6\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u6216\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13<br><\/li>\n\n\n\n<li>\u5c0f\u8111\u5f02\u5e38\u6216\u8fd0\u52a8\u5931\u8c03\uff08Joubert\u7efc\u5408\u75c7\uff09<br><\/li>\n\n\n\n<li>\u80be\u810f\u6216\u809d\u810f\u5f02\u5e38<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD_%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD\"><\/span><strong>\u68c0\u67e5\u4e0e\u8bca\u65ad | \u68c0\u67e5\u4e0e\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u51c6\u786e\u8bca\u65ad\u9700\u8981\u591a\u9879\u68c0\u67e5\u548c\u8bc4\u4f30\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u68c0\u67e5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u89c6\u7f51\u819c\u7535\u56fe\uff08ERG\uff09<\/strong>\uff1a\u6d4b\u91cf\u89c6\u7f51\u819c\u5bf9\u5149\u7684\u53cd\u5e94\uff0c<strong>LCA10<\/strong>\u60a3\u8005\u901a\u5e38\u53cd\u5e94\u51e0\u4e4e\u4e3a\u96f6\u3002<br><\/li>\n\n\n\n<li><strong>\u5149\u5e72\u6d89\u65ad\u5c42\u626b\u63cf\uff08OCT\uff09<\/strong>\uff1a\u8be6\u7ec6\u68c0\u67e5\u89c6\u7f51\u819c\u7ed3\u6784\uff0c\u901a\u5e38<strong>\u4e2d\u592e\u51f9<\/strong>\u7ed3\u6784\u5f97\u4ee5\u4fdd\u6301\u3002<br><\/li>\n\n\n\n<li><strong>\u773c\u5e95\u68c0\u67e5<\/strong>\uff1a\u968f\u7740\u75c5\u60c5\u8fdb\u5c55\uff0c\u89c6\u7f51\u819c\u4e0a\u53ef\u80fd\u51fa\u73b0\u767d\u6591\u6216\u8272\u7d20\u6c89\u7740\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u57fa\u56e0\u68c0\u6d4b<\/strong>\uff1a<br>\u591a\u57fa\u56e0\u9762\u677f\u68c0\u6d4b\u53ef\u4ee5\u5e2e\u52a9\u8bc6\u522b<strong>CEP290<\/strong>\u57fa\u56e0\u7684\u7a81\u53d8\u3002<br>\u786e\u5b9a\u75c5\u7406\u7a81\u53d8\u662f\u786e\u8bca\u7684\u5fc5\u8981\u6b65\u9aa4\uff0c\u786e\u8bca\u540e\u53ef\u4ee5\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\u3002<br><\/li>\n\n\n\n<li><strong>\u9274\u522b\u8bca\u65ad<\/strong>\uff1a<br>\u9700\u8981\u4e0e\u4ee5\u4e0b\u75be\u75c5\u8fdb\u884c\u9274\u522b\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u8272\u89c9\u5f02\u5e38\uff08Achromatopsia\uff09<br><\/li>\n\n\n\n<li>\u5148\u5929\u6027\u591c\u76f2\u75c7\uff08Congenital Stationary Night Blindness\uff09<br><\/li>\n\n\n\n<li>\u767d\u5316\u75c5\uff08Albinism\uff09<br><\/li>\n\n\n\n<li>\u795e\u7ecf\u7c7b\u8102\u8d28\u6c89\u79ef\u75c7\uff08Neuronal Ceroid Lipofuscinosis\uff09<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>Zellweger\u7efc\u5408\u75c7\uff08Zellweger Spectrum Disorder\uff09<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86_%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406 | \u6cbb\u7597\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\uff0c<strong>LCA10<\/strong>\u6ca1\u6709\u6807\u51c6\u7684\u6cbb\u6108\u65b9\u6cd5\uff0c\u56e0\u6b64\u652f\u6301\u6027\u6cbb\u7597\u81f3\u5173\u91cd\u8981\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u89c6\u529b\u8f85\u52a9\u8bbe\u5907<\/strong>\uff1a<br>\u4f7f\u7528\u653e\u5927\u955c\u6216\u906e\u5149\u773c\u955c\u5e2e\u52a9\u63d0\u9ad8\u89c6\u529b\u3002<br><\/li>\n\n\n\n<li><strong>\u8fdc\u89c6\u77eb\u6b63<\/strong>\uff1a<br>\u914d\u6234\u773c\u955c\u77eb\u6b63\u8fdc\u89c6\u3002<br><\/li>\n\n\n\n<li><strong>\u5e76\u53d1\u75c7\u7ba1\u7406<\/strong>\uff1a<br>\u5904\u7406\u5706\u9525\u89d2\u819c\u548c\u767d\u5185\u969c\u7b49\u773c\u90e8\u95ee\u9898\u3002<br><\/li>\n\n\n\n<li><strong>\u513f\u7ae5\u53d1\u5c55\u652f\u6301<\/strong>\uff1a<br>\u65e9\u671f\u5e72\u9884\uff0c\u5982\u4f7f\u7528\u542c\u89c9\u548c\u89e6\u89c9\u8fdb\u884c\u6559\u80b2\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u7814\u7a76\u4e2d\u7684\u6cbb\u7597\u65b9\u6cd5<\/strong>\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u53cd\u4e49\u5be1\u6838\u82f7\u9178\u6cbb\u7597\uff08AON\uff09<\/strong>\uff1a<br><strong>Sepofarsen (QR-110)\u65e8\u5728\u901a\u8fc7\u53bb\u9664mRNA\u4e2d\u7684\u9690\u6027\u5916\u663e\u5b50\u6765\u6062\u590d\u6b63\u5e38\u7684CEP290<\/strong>\u86cb\u767d\u4ea7\u751f\u3002\u65e9\u671f\u4e34\u5e8a\u8bd5\u9a8c\u5df2\u663e\u793a\u89c6\u529b\uff08BCVA\uff09\u548c\u884c\u52a8\u80fd\u529b\u7684\u6539\u5584\u3002<br><\/li>\n<\/ol>\n\n\n\n<p><strong>\u57fa\u56e0\u7f16\u8f91\uff08CRISPR-Cas9\uff09<\/strong>\uff1a<br><strong>EDIT-101<\/strong>\u65e8\u5728\u76f4\u63a5\u5220\u9664\u57fa\u56e0\u4e2d\u7684\u6df1\u5c42\u5185\u542b\u5b50\u7a81\u53d8<strong>c.2991+1655A&gt;G<\/strong>\uff0c\u65e9\u671f\u4e34\u5e8a\u8bd5\u9a8c\u663e\u793a\u5b89\u5168\u6027\u826f\u597d\uff0c\u5e76\u5728\u89c6\u529b\u3001\u5149\u654f\u611f\u5ea6\u3001\u884c\u52a8\u80fd\u529b\u548c\u751f\u6d3b\u8d28\u91cf\u7b49\u65b9\u9762\u6709\u6240\u6539\u5584\uff0c\u5c24\u5176\u5728\u513f\u7ae5\u60a3\u8005\u4e2d\u6548\u679c\u66f4\u52a0\u663e\u8457\uff0c\u8868\u660e\u65e9\u671f\u6cbb\u7597\u53ef\u80fd\u66f4\u4e3a\u6709\u6548\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E_%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e | \u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;<strong>LCA10<\/strong>\u5728\u672a\u6cbb\u7597\u7684\u60c5\u51b5\u4e0b\u5c06\u5bfc\u81f4\u7ec8\u751f\u4e25\u91cd\u89c6\u529b\u969c\u788d\u3002\u7136\u800c\uff0c\u6709\u4e9b\u75c5\u4f8b\u663e\u793a\u4e2d\u592e\u89c6\u7f51\u819c\u7ed3\u6784\u957f\u671f\u5f97\u4ee5\u4fdd\u5b58\uff0c\u8fd9\u4e3a\u6cbb\u7597\u5e72\u9884\u63d0\u4f9b\u4e86\u5e0c\u671b\u3002<\/p>\n\n\n\n<p>\u9884\u540e\u53d6\u51b3\u4e8e\u4ee5\u4e0b\u56e0\u7d20\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7a81\u53d8\u7c7b\u578b\uff08\u65e0\u529f\u80fd\u578b\u7a81\u53d8\u53ef\u80fd\u5bfc\u81f4\u66f4\u4e25\u91cd\u7684\u75c5\u60c5\uff09<br><\/li>\n\n\n\n<li>\u6cbb\u7597\u5f00\u59cb\u7684\u65f6\u95f4\uff08\u8d8a\u65e9\u6cbb\u7597\u6548\u679c\u8d8a\u597d\uff09<br><\/li>\n\n\n\n<li>\u662f\u5426\u5b58\u5728\u5168\u8eab\u75c7\u72b6\uff08\u5982Joubert\u7efc\u5408\u75c7\u9700\u8981\u5168\u8eab\u62a4\u7406\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u8bca\u65ad\u548c\u652f\u6301\u6027\u6cbb\u7597\u81f3\u5173\u91cd\u8981\uff0c\u53ef\u4ee5\u5e2e\u52a9\u63d0\u9ad8\u751f\u6d3b\u8d28\u91cf\u5e76\u83b7\u5f97\u672a\u6765\u6cbb\u7597\u7684\u673a\u4f1a\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD_%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD\"><\/span><strong>\u6709\u7528\u672f\u8bed | \u6709\u7528\u672f\u8bed<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u56e0\uff08Gene\uff09<\/strong>\uff1a\u8eab\u4f53\u7684\u201c\u8bbe\u8ba1\u56fe\u201d\uff0c\u5305\u542b\u51b3\u5b9a\u8eab\u4f53\u529f\u80fd\u7684\u4fe1\u606f\uff0c\u4ece\u7236\u6bcd\u5904\u7ee7\u627f\u3002<br><\/li>\n\n\n\n<li><strong>\u57fa\u56e0\u7a81\u53d8\uff08Gene Mutation\uff09<\/strong>\uff1a\u57fa\u56e0\u4e2d\u7684\u53d8\u5316\uff0c\u5bfc\u81f4\u6240\u9700\u7684\u86cb\u767d\u8d28\u65e0\u6cd5\u6b63\u5e38\u751f\u4ea7\uff0c\u4ece\u800c\u5f15\u53d1\u75be\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>CEP290<\/strong>\uff1a\u5728\u773c\u775b\u7684\u5149\u53d7\u4f53\u7ec6\u80de\u4e2d\u53d1\u6325\u91cd\u8981\u4f5c\u7528\u7684\u57fa\u56e0\uff0c\u7a81\u53d8\u4f1a\u5f71\u54cd\u89c6\u529b\u3002<br><\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08Autosomal Recessive Inheritance\uff09<\/strong>\uff1a\u7236\u6bcd\u53cc\u65b9\u90fd\u643a\u5e26\u7a81\u53d8\u57fa\u56e0\uff0c\u5b50\u5973\u53ea\u6709\u7ee7\u627f\u4e24\u4e2a\u7a81\u53d8\u57fa\u56e0\u65f6\u624d\u8868\u73b0\u51fa\u75be\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>\u89c6\u7f51\u819c\uff08Retina\uff09<\/strong>\uff1a\u773c\u775b\u540e\u90e8\uff0c\u8d1f\u8d23\u611f\u77e5\u5149\u7ebf\u5e76\u5c06\u4fe1\u53f7\u4f20\u9012\u5230\u5927\u8111\u7684\u90e8\u4f4d\u3002<br><\/li>\n\n\n\n<li><strong>\u5149\u53d7\u4f53\u7ec6\u80de\uff08Photoreceptor Cells\uff09<\/strong>\uff1a\u5728\u89c6\u7f51\u819c\u5185\uff0c\u4e13\u95e8\u611f\u77e5\u5149\u7ebf\u7684\u7ec6\u80de\u3002<br><\/li>\n\n\n\n<li><strong>\u7ea4\u6bdb\uff08Cilia\uff09<\/strong>\uff1a\u7ec6\u80de\u8868\u9762\u7684\u5c0f\u6bdb\u72b6\u7ed3\u6784\uff0c\u5e2e\u52a9\u4f20\u9012\u4fe1\u606f\u6216\u8fd0\u9001\u7269\u8d28\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<!-- 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