{"id":111965,"date":"2025-07-01T11:44:07","date_gmt":"2025-07-01T02:44:07","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/"},"modified":"2025-10-16T14:39:12","modified_gmt":"2025-10-16T05:39:12","slug":"achromatopsia-cngb3-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/?lang=zh-hans","title":{"rendered":"CNGB3\u76f8\u5173\u5148\u5929\u6027\u8272\u89c9\u5f02\u5e38\uff08\u5168\u8272\u76f2\u7c7b\u578b3\uff09\u3010CNGB3\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>**\u5168\u8272\u76f2\uff08Achromatopsia\uff09**\u662f\u4e00\u79cd\u5148\u5929\u6027\u7684\u773c\u90e8\u75be\u75c5\uff0c\u5bfc\u81f4\u8d1f\u8d23\u611f\u77e5\u989c\u8272\u7684\u7ec6\u80de\u65e0\u6cd5\u6b63\u5e38\u5de5\u4f5c\uff0c\u51fa\u73b0\u5bf9\u5149\u654f\u611f\u3001\u89c6\u529b\u4e0b\u964d\u4ee5\u53ca\u65e0\u6cd5\u533a\u5206\u989c\u8272\u7b49\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u5c24\u5176\u662f\u7531<strong>CNGB3\u57fa\u56e0<\/strong>\u7684\u5f02\u5e38\u5f15\u8d77\u7684\u7c7b\u578b\uff08\u5168\u8272\u76f2\u7c7b\u578b3\uff09\uff0c\u5e38\u5e38\u5728\u513f\u7ae5\u65f6\u671f\u5c31\u80fd\u53d1\u73b0\u3002<\/p>\n\n\n\n<p>\u672c\u9875\u9762\u4ee5\u901a\u4fd7\u6613\u61c2\u7684\u8bed\u8a00\u89e3\u91ca\u4e86\u8fd9\u79cd\u75be\u75c5\u7684\u6210\u56e0\u3001\u75c7\u72b6\u3001\u68c0\u67e5\u65b9\u6cd5\u3001\u6cbb\u7597\u65b9\u6cd5\u4ee5\u53ca\u672a\u6765\u7684\u7814\u7a76\u65b9\u5411\uff0c\u65e8\u5728\u4e3a\u90a3\u4e9b\u5bf9\u5b69\u5b50\u89c6\u529b\u6216\u8272\u89c9\u6709\u7591\u8651\u7684\u5bb6\u957f\u548c\u5df2\u786e\u8bca\u7684\u5bb6\u5ead\u63d0\u4f9b\u53c2\u8003\u4fe1\u606f\u3002<\/p>\n\n\n\n<p><\/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\/achromatopsia-cngb3-overview\/?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\/achromatopsia-cngb3-overview\/?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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E6%A6%82%E8%BF%B0\" >\u6982\u8ff0<\/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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\" >\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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0\" >\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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6\" >\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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD\" >\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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E6%96%B0%E5%85%B4%E6%B2%BB%E7%96%97\" >\u65b0\u5174\u6cbb\u7597<\/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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/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\/achromatopsia-cngb3-overview\/?lang=zh-hans\/#%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD\" >\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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/?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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/?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>CNGB3<\/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\/07\/CNGB3-hgtIdeo_genome_asia_d18bf_33ed10-1024x26.png\" alt=\"CNGB3\" class=\"wp-image-102803\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5168\u8272\u76f2\u7c7b\u578b3\uff08\u53c8\u79f0\u4e3a<strong>\u5168\u8272\u76f2\u7c7b\u578b3<\/strong>\uff09\u662f\u7531<strong>CNGB3\u57fa\u56e0<\/strong>\u7684\u4e24\u4efd\u62f7\u8d1d\uff08\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff09\u51fa\u73b0\u81f4\u75c5\u6027\u7a81\u53d8\u5f15\u8d77\u7684\uff0c\u8fd9\u4e2a\u57fa\u56e0\u4f4d\u4e8e8\u53f7\u67d3\u8272\u4f53\u7684q21.3\u4f4d\u7f6e\u3002<\/p>\n\n\n\n<p>CNGB3\u57fa\u56e0\u7f16\u7801\u4e00\u4e2a\u91cd\u8981\u7684\u86cb\u767d\u8d28\uff0c\u8d1f\u8d23\u773c\u775b\u5185\u7684\u89c6\u9525\u7ec6\u80de\u7684\u6b63\u5e38\u529f\u80fd\uff0c\u8fd9\u4e9b\u7ec6\u80de\u8d1f\u8d23\u5904\u7406\u660e\u4eae\u5149\u7ebf\u548c\u989c\u8272\u4fe1\u606f\uff0c\u5e76\u5c06\u5176\u8f6c\u6362\u4e3a\u7535\u4fe1\u53f7\u3002\u5982\u679c\u8fd9\u4e2a\u57fa\u56e0\u53d1\u751f\u7a81\u53d8\uff0c\u5c31\u4f1a\u5e72\u6270\u8fd9\u4e2a\u8fc7\u7a0b\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>&nbsp;\u8be5\u75be\u75c5\u79f0\u4e3a<strong>\u5168\u8272\u76f2\uff08Achromatopsia\uff09<\/strong>\uff0c\u5e38\u88ab\u79f0\u4e3a\u201c\u5148\u5929\u6027\u8272\u89c9\u4e27\u5931\u201d\u6216\u201c\u5b8c\u5168\u8272\u76f2\u201d\u3002\u5982\u679c\u662f\u7531<strong>CNGB3\u57fa\u56e0<\/strong>\u7a81\u53d8\u5f15\u8d77\u7684\uff0c\u5219\u79f0\u4e3a<strong>\u5168\u8272\u76f2\u7c7b\u578b3\uff08ACHM3\uff09\u6216CNGB3\u76f8\u5173\u5168\u8272\u76f2<\/strong>\u3002<\/p>\n\n\n\n<p>\u6709\u65f6\u5b83\u4e5f\u88ab\u79f0\u4e3a<strong>\u6746\u4f53\u5355\u8272\u89c6\uff08Rod Monochromacy\uff09<\/strong>\uff0c\u8fd9\u662f\u4e00\u79cd\u53ea\u6709\u6746\u72b6\u7ec6\u80de\uff08\u8d1f\u8d23\u4f4e\u5149\u6761\u4ef6\u4e0b\u7684\u89c6\u89c9\uff09\u5728\u5de5\u4f5c\uff0c\u800c\u89c6\u9525\u7ec6\u80de\uff08\u8d1f\u8d23\u611f\u77e5\u989c\u8272\uff09\u4e0d\u5de5\u4f5c\u7684\u72b6\u6001\u3002\u5728\u4e00\u4e9b\u5730\u533a\uff0c\u5b83\u4e5f\u88ab\u79f0\u4e3a<strong>Pingelapese blindness\uff08\u5e73\u683c\u62c9\u666e\u5c9b\u76f2\u75c7\uff09<\/strong>\uff0c\u56e0\u4e3a\u5728\u5bc6\u514b\u7f57\u5c3c\u897f\u4e9a\u7684\u5e73\u683c\u62c9\u666e\u5c9b\u4e0a\uff0cCNGB3\u7684\u7279\u5b9a\u7a81\u53d8\u8f83\u4e3a\u5e38\u89c1\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0\"><\/span><strong>\u6982\u8ff0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5168\u8272\u76f2\u7c7b\u578b3\u53d1\u751f\u5728\u89c6\u7f51\u819c\u4e2d\u7684\u89c6\u9525\u7ec6\u80de\u65e0\u6cd5\u6b63\u5e38\u5de5\u4f5c\u65f6\u3002\u5e38\u89c1\u75c7\u72b6\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5149\u654f\u611f\uff08\u5149\u8fc7\u654f\u75c7\uff0cPhotophobia\uff09<\/strong>\uff1a\u5728\u660e\u4eae\u7684\u73af\u5883\u4e2d\u7741\u773c\u56f0\u96be<br><\/li>\n\n\n\n<li><strong>\u773c\u9707\uff08\u773c\u7403\u9707\u98a4\uff0cNystagmus\uff09<\/strong>\uff1a\u773c\u775b\u4e0d\u81ea\u4e3b\u7684\u5c0f\u5e45\u5ea6\u5feb\u901f\u79fb\u52a8<br><\/li>\n\n\n\n<li><strong>\u89c6\u529b\u4e0b\u964d\uff08\u4f4e\u89c6\u529b\uff0cLow Visual Acuity\uff09<\/strong>\uff1a\u5b8c\u5168\u578b\u89c6\u529b\u901a\u5e38\u5c0f\u4e8e0.1\uff0820\/200\uff09\uff0c\u4e0d\u5b8c\u5168\u578b\u7684\u89c6\u529b\u4e5f\u53ef\u8fbe\u52300.3\u5de6\u53f3\uff0820\/80\uff09<br><\/li>\n\n\n\n<li><strong>\u5b8c\u5168\u8272\u76f2<\/strong>\uff1a\u65e0\u6cd5\u533a\u5206\u4efb\u4f55\u989c\u8272<br><\/li>\n\n\n\n<li><strong>\u4e2d\u5fc3\u6697\u70b9\uff08\u4e2d\u5fc3\u76f2\u70b9\uff0cCentral Scotoma\uff09\u6216\u504f\u5fc3\u56fa\u89c6\uff08\u504f\u5fc3\u6ce8\u89c6\uff0cEccentric Fixation\uff09<\/strong>\uff1a\u89c6\u91ce\u4e2d\u5fc3\u90e8\u5206\u51fa\u73b0\u6a21\u7cca<br><\/li>\n\n\n\n<li><strong>\u5c48\u5149\u5f02\u5e38\uff08\u5c48\u5149\u4e0d\u6b63\uff0cRefractive Error\uff09<\/strong>\uff1a\u8fdc\u89c6\u3001\u8fd1\u89c6\u6216\u6563\u5149\u7b49\u95ee\u9898<br><\/li>\n<\/ul>\n\n\n\n<p>\u8be5\u75c5\u901a\u5e38\u662f\u7a33\u5b9a\u7684\uff0c\u4f46\u5728\u4e00\u4e9b\u60a3\u8005\u4e2d\uff0c\u89c6\u529b\u53ef\u80fd\u4f1a\u968f\u7740\u65f6\u95f4\u7684\u63a8\u79fb\u9010\u6e10\u6076\u5316\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\"><\/span><strong>\u6d41\u884c\u75c5\u5b66<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5168\u8272\u76f2\u662f\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\uff0c\u5168\u7403\u7ea6\u6bcf3\u4e07\u4eba\u81f35\u4e07\u4eba\u4e2d\u5c31\u67091\u4f8b\u3002<\/p>\n\n\n\n<p>\u5176\u4e2d\uff0c\u7531<strong>CNGB3\u57fa\u56e0<\/strong>\u7a81\u53d8\u5f15\u8d77\u7684\u7c7b\u578b\u5360\u5168\u8272\u76f2\u75c5\u4f8b\u768460\uff5e70%\uff0c\u5c24\u5176\u5728\u6b27\u6d32\u4eba\u7fa4\u4e2d\u8f83\u4e3a\u5e38\u89c1\u3002\u6700\u5e38\u89c1\u7684\u75c5\u7406\u7a81\u53d8\u662f<strong>c.1148delC<\/strong>\uff0c\u7ea6\u5360\u5168\u7403\u5168\u8272\u76f2\u75c5\u4f8b\u768440%\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0\"><\/span><strong>\u75c5\u56e0<\/strong> <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CNGB3\u57fa\u56e0<\/strong>\u7684\u7a81\u53d8\u4f7f\u5f97\u89c6\u9525\u7ec6\u80de\u5185\u7684\u79bb\u5b50\u901a\u9053\u03b2\u4e9a\u5355\u4f4d\u65e0\u6cd5\u6b63\u5e38\u5408\u6210\uff0c\u4ece\u800c\u65e0\u6cd5\u6b63\u786e\u5730\u5c06\u5149\u4fe1\u53f7\u8f6c\u6362\u4e3a\u7535\u4fe1\u53f7\u3002<\/p>\n\n\n\n<p>\u56e0\u6b64\uff0c\u4eae\u5149\u73af\u5883\u4e2d\u7684\u89c6\u89c9\u5904\u7406\u548c\u989c\u8272\u8fa8\u8bc6\u53d7\u5230\u4e25\u91cd\u5f71\u54cd\u3002\u8be5\u57fa\u56e0\u7a81\u53d8\u53ef\u80fd\u4ee5\u591a\u79cd\u5f62\u5f0f\u5b58\u5728\uff0c\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e0\u4e49\u7a81\u53d8\uff08Nonsense mutation\uff09<\/strong>\uff1a\u5bfc\u81f4\u86cb\u767d\u8d28\u5408\u6210\u63d0\u524d\u505c\u6b62<br><\/li>\n\n\n\n<li><strong>\u6846\u79fb\u7a81\u53d8\uff08Frameshift mutation\uff09<\/strong>\uff1a\u6539\u53d8\u4e86\u57fa\u56e0\u7684\u9605\u8bfb\u6846\u67b6<br><\/li>\n\n\n\n<li><strong>\u526a\u63a5\u4f4d\u70b9\u7a81\u53d8\uff08Splice-site mutation\uff09<\/strong>\uff1a\u5f71\u54cdRNA\u7684\u62fc\u63a5<br><\/li>\n\n\n\n<li><strong>\u9519\u4e49\u7a81\u53d8\uff08Missense mutation\uff09<\/strong>\uff1a\u5bfc\u81f4\u4e00\u4e2a\u6c28\u57fa\u9178\u88ab\u9519\u8bef\u66ff\u6362<br><\/li>\n<\/ul>\n\n\n\n<p>\u5728\u5927\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u7236\u6bcd\u53ef\u80fd\u662f\u8be5\u57fa\u56e0\u7684\u643a\u5e26\u8005\uff08\u57fa\u56e0\u7a81\u53d8\u53ea\u6709\u4e00\u4efd\uff09\uff0c\u5e76\u4e14\u5065\u5eb7\uff0c\u800c\u5b69\u5b50\u5219\u540c\u65f6\u4ece\u7236\u6bcd\u90a3\u91cc\u7ee7\u627f\u4e86\u4e24\u4efd\u7a81\u53d8\u7684CNGB3\u57fa\u56e0\u3002\u306b1\u3064\u305a\u3064\u5909\u7570\u3092\u6301\u3064\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6\"><\/span><strong>\u75c7\u72b6<\/strong> <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5168\u8272\u76f2\u7c7b\u578b3<\/strong>\u7684\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f3a\u5149\u8fc7\u654f\uff08\u5149\u8fc7\u654f\uff09<\/strong>\uff1a\u5bf9\u660e\u4eae\u7684\u5149\u7ebf\u7279\u522b\u654f\u611f\uff0c\u7741\u773c\u56f0\u96be<br><\/li>\n\n\n\n<li><strong>\u773c\u9707\uff08Nystagmus\uff09<\/strong>\uff1a\u773c\u7403\u5c0f\u5e45\u5ea6\u4e0d\u81ea\u4e3b\u79fb\u52a8<br><\/li>\n\n\n\n<li><strong>\u89c6\u529b\u4e0b\u964d<\/strong>\uff1a\u5b8c\u5168\u578b\u901a\u5e38\u5c0f\u4e8e0.1\uff0820\/200\uff09\uff0c\u4e0d\u5b8c\u5168\u578b\u53ef\u8fbe\u52300.3\uff0820\/80\uff09<br><\/li>\n\n\n\n<li><strong>\u5b8c\u5168\u8272\u76f2<\/strong>\uff1a\u65e0\u6cd5\u8fa8\u522b\u7ea2\u8272\u3001\u7eff\u8272\u6216\u84dd\u8272<br><\/li>\n\n\n\n<li><strong>\u4e2d\u5fc3\u76f2\u70b9\u6216\u504f\u5fc3\u56fa\u89c6<\/strong>\uff1a\u89c6\u91ce\u4e2d\u5fc3\u533a\u57df\u7684\u89c6\u89c9\u6a21\u7cca<br><\/li>\n\n\n\n<li><strong>\u5c48\u5149\u5f02\u5e38<\/strong>\uff1a\u5982\u8fdc\u89c6\u3001\u8fd1\u89c6\u6216\u6563\u5149<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u75c7\u72b6\u901a\u5e38\u5728\u51fa\u751f\u540e\u51e0\u5468\u5230\u51e0\u4e2a\u6708\u5185\u51fa\u73b0\uff0c\u5e76\u4e14\u57fa\u672c\u4fdd\u6301\u7a33\u5b9a\uff0c\u4f46\u4e00\u4e9b\u60a3\u8005\u53ef\u80fd\u4f1a\u7ecf\u5386\u7f13\u6162\u7684\u8fdb\u5c55\u3002<\/p>\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\"><\/span><strong>\u68c0\u67e5\u4e0e\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e34\u5e8a\u68c0\u67e5<\/strong>\uff1a\u89c2\u5bdf\u5230\u5149\u654f\u611f\u3001\u773c\u9707\u548c\u89c6\u529b\u4e0b\u964d\u7b49\u75c7\u72b6\uff0c\u7279\u522b\u662f\u5728\u5a74\u513f\u4e2d\u975e\u5e38\u91cd\u8981\u3002<br><\/li>\n\n\n\n<li><strong>\u8272\u89c9\u68c0\u67e5<\/strong>\uff1a\u4f7f\u7528\u6cd5\u6069\u65af\u6c83\u65af\u6d4b\u8bd5\uff08Farnsworth D-15\uff09\u6216\u5f02\u8272\u8ba1\uff08anomaloscope\uff09\u6d4b\u8bd5\u8272\u89c9\u80fd\u529b\u3002<br><\/li>\n\n\n\n<li><strong>\u7535\u751f\u7406\u68c0\u67e5\uff08ERG\uff09<\/strong>\uff1a\u6d4b\u91cf\u89c6\u7f51\u819c\u5bf9\u5149\u7684\u53cd\u5e94\uff0cCNGB3\u578b\u5168\u8272\u76f2\u60a3\u8005\u7684\u89c6\u9525\u7ec6\u80de\u53cd\u5e94\u975e\u5e38\u5f31\u6216\u6839\u672c\u6ca1\u6709\u53cd\u5e94\u3002<br><\/li>\n\n\n\n<li><strong>\u5149\u5b66\u76f8\u5e72\u65ad\u5c42\u626b\u63cf\uff08OCT\uff09<\/strong>\uff1a\u68c0\u67e5\u89c6\u7f51\u819c\u7684\u7ed3\u6784\uff0c\u5c24\u5176\u662f\u9ec4\u6591\u7684\u53d1\u80b2\u662f\u5426\u5f02\u5e38\u3002<br><\/li>\n\n\n\n<li><strong>\u773c\u5e95\u81ea\u53d1\u8367\u5149\uff08FAF\uff09<\/strong>\uff1a\u8bc4\u4f30\u89c6\u7f51\u819c\u7684\u4ee3\u8c22\u72b6\u6001\u548c\u635f\u4f24\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u57fa\u56e0\u68c0\u6d4b<\/strong>\uff1a\u901a\u8fc7\u68c0\u6d4b<strong>CNGB3\u57fa\u56e0<\/strong>\u7684\u7a81\u53d8\u6765\u786e\u8ba4\u8bca\u65ad\u3002<\/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\"><\/span><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\u6ca1\u6709\u6cbb\u6108\u65b9\u6cd5\uff0c\u4f46\u53ef\u4ee5\u901a\u8fc7\u4ee5\u4e0b\u65b9\u5f0f\u7f13\u89e3\u75c7\u72b6\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u906e\u5149\u773c\u955c\u6216\u6709\u8272\u773c\u955c<\/strong>\uff1a\u5e2e\u52a9\u51cf\u5c11\u5149\u654f\u611f<br><\/li>\n\n\n\n<li><strong>\u653e\u5927\u955c\u548c\u89c6\u89c9\u8f85\u52a9\u8bbe\u5907<\/strong>\uff1a\u5e2e\u52a9\u8865\u507f\u89c6\u529b\u5f31\u7684\u60c5\u51b5<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u6559\u80b2\u652f\u6301<\/strong>\uff1a\u63d0\u4f9b\u7279\u6b8a\u7684\u5ea7\u4f4d\u5b89\u6392\u548c\u4e0d\u592a\u660e\u4eae\u7684\u5b66\u4e60\u73af\u5883<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E5%85%B4%E6%B2%BB%E7%96%97\"><\/span><strong>\u65b0\u5174\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u56e0\u6cbb\u7597<\/strong>\uff1a\u4e34\u5e8a\u8bd5\u9a8c\u6b63\u5728\u4f7f\u7528\u75c5\u6bd2\u8f7d\u4f53\uff08AAV\uff09\u5c06\u6b63\u5e38\u7684<strong>CNGB3\u57fa\u56e0<\/strong>\u5bfc\u5165\u89c6\u7f51\u819c\u3002<br><\/li>\n\n\n\n<li><strong>\u795e\u7ecf\u751f\u957f\u56e0\u5b50\u6cbb\u7597\uff08CNTF\uff09<\/strong>\uff1a\u52a8\u7269\u5b9e\u9a8c\u663e\u793a\u6548\u679c\uff0c\u4f46\u5728\u4eba\u7c7b\u4e2d\u7684\u6548\u679c\u6709\u9650\u3002<br><\/li>\n\n\n\n<li><strong>\u89c6\u9ec4\u9187\u7597\u6cd5\uff08Retinoid Therapy\uff09<\/strong>\uff1a\u53ef\u80fd\u6539\u5584\u7279\u5b9a\u7a81\u53d8\u7684\u7ec6\u80de\u529f\u80fd\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u5e72\u7ec6\u80de\u7597\u6cd5\uff08Stem Cell Therapy\uff09<\/strong>\uff1a\u7814\u7a76\u6b63\u5728\u8fdb\u884c\uff0c\u63a2\u7d22\u5c06\u5e72\u7ec6\u80de\u79fb\u690d\u5230\u89c6\u7f51\u819c\u4ee5\u91cd\u5efa\u89c6\u7ec6\u80de\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong> <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4f20\u7edf\u4e0a\u8ba4\u4e3a<strong>\u5168\u8272\u76f2\u7c7b\u578b3<\/strong>\u4e0d\u4f1a\u8fdb\u5c55\uff08\u9759\u6b62\u578b\uff09\uff0c\u4f46\u6700\u8fd1\u7684\u7814\u7a76\u53d1\u73b0\uff0c\u90e8\u5206\u60a3\u8005\u7684\u89c6\u529b\u53ef\u80fd\u4f1a\u968f\u7740\u5e74\u9f84\u7684\u589e\u957f\u800c\u9010\u6e10\u4e0b\u964d\uff0c\u6216\u89c6\u7f51\u819c\u7ed3\u6784\u53d1\u751f\u53d8\u5316\u3002<\/p>\n\n\n\n<p>\u53ca\u65e9\u8bca\u65ad\u548c\u5b9a\u671f\u968f\u8bbf\u975e\u5e38\u91cd\u8981\uff0c\u7279\u522b\u662f\u5728\u5e74\u8f7b\u60a3\u8005\u4e2d\uff0c\u6cbb\u7597\u6548\u679c\u53ef\u80fd\u66f4\u4e3a\u663e\u8457\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\"><\/span><strong>\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\u662f\u8eab\u4f53\u7684\u84dd\u56fe\uff0c\u6765\u81ea\u7236\u6bcd\uff0c\u51b3\u5b9a\u4e86\u8eab\u4f53\u7684\u7279\u5f81\u548c\u529f\u80fd\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\u5404\u81ea\u643a\u5e26\u4e00\u4efd\u7a81\u53d8\u57fa\u56e0\uff0c\u5b50\u5973\u624d\u4f1a\u9057\u4f20\u8be5\u75be\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>CNGB3\u57fa\u56e0\uff08CNGB3 Gene\uff09<\/strong>\uff1a\u4e00\u4e2a\u91cd\u8981\u7684\u57fa\u56e0\uff0c\u8d1f\u8d23\u89c6\u7f51\u819c\u4e2d\u89c6\u9525\u7ec6\u80de\u7684\u6b63\u5e38\u5de5\u4f5c\uff0c\u4f7f\u5f97\u989c\u8272\u89c6\u89c9\u6210\u4e3a\u53ef\u80fd\u3002<br><\/li>\n\n\n\n<li><strong>\u5168\u8272\u76f2\uff08Achromatopsia\uff09<\/strong>\uff1a\u4e00\u79cd\u89c6\u9525\u7ec6\u80de\u65e0\u6cd5\u6b63\u5e38\u5de5\u4f5c\u7684\u773c\u90e8\u75be\u75c5\uff0c\u5bfc\u81f4\u65e0\u6cd5\u611f\u77e5\u989c\u8272\uff0c\u4f34\u6709\u5176\u4ed6\u89c6\u89c9\u95ee\u9898\u3002<br><\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u56e0\u6cbb\u7597\uff08Gene Therapy\uff09<\/strong>\uff1a\u5c06\u6b63\u5e38\u7684\u57fa\u56e0\u5bfc\u5165\u89c6\u7f51\u819c\uff0c\u66ff\u6362\u6389\u6709\u95ee\u9898\u7684\u57fa\u56e0\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:\/\/doi.org\/10.3928\/01913913-20171117-01\">Pascual-Camps, Isabel, et al. \u2018Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature\u2019. Journal of Pediatric Ophthalmology &amp; Strabismus, vol. 55, no. 2, Mar. 2018, pp. 85\u201392. DOI.org (Crossref), https:\/\/doi.org\/10.3928\/01913913-20171117-01.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/ejhg.2010.231\">Kohl, Susanne, and Christian P. Hamel. \u2018Clinical Utility Gene Card for: Achromatopsia\u2019. European Journal of Human Genetics, vol. 19, no. 6, Jun. 2011, pp. 732\u2013732. DOI.org (Crossref), https:\/\/doi.org\/10.1038\/ejhg.2010.231.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes14030690\">Andersen, Mette Kj\u00f8b\u00e6k Gundestrup, et al. \u2018Genetic and Clinical Characterization of Danish Achromatopsia Patients\u2019. Genes, vol. 14, no. 3, Mar. 2023, p. 690. DOI.org (Crossref), https:\/\/doi.org\/10.3390\/genes14030690.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms22041681\">Brunetti-Pierri, Raffaella, et al. \u2018Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study\u2019. <em>International Journal of Molecular Sciences<\/em>, vol. 22, no. 4, Feb. 2021, p. 1681. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/ijms22041681.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1167\/iovs.62.2.10\">Andersen, Mette Kj\u00f8b\u00e6k Gundestrup, and Line Kessel. \u2018Ametropia and Emmetropization in CNGB3 Achromatopsia\u2019. Investigative Opthalmology &amp; Visual Science, vol. 62, no. 2, Feb. 2021, p. 10. DOI.org (Crossref), https:\/\/doi.org\/10.1167\/iovs.62.2.10.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/\">Kohl S, J\u00e4gle H, Wissinger B, et al. Achromatopsia. 2004 Jun 24 [Updated 2018 Sep 20]. 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\/NBK1418\/<\/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>Achromatopsia, CNGB3, \u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2, Rod Monochromacy, \u5168\u8272\u76f2, \u8272\u899a\u7570\u5e38, \u9310\u4f53\u7d30\u80de, \u773c\u632f, \u7f9e\u660e, \u8996\u529b\u4f4e\u4e0b, c.1148delC, \u907a\u4f1d\u5b50\u6cbb\u7642, ERG, OCT, \u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u907a\u4f1d\u6027\u7db2\u819c\u75be\u60a3, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/a>, \u7db2\u819c\u69cb\u9020\u7570\u5e38, \u5c48\u6298\u7570\u5e38, \u5e79\u7d30\u80de\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\",\n  \"name\": \"Achromatopsia 3\",\n  \"alternateName\": \"\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u30fb\u30bf\u30a4\u30d73\",\n  \"description\": \"CNGB3\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5148\u5929\u6027\u8272\u899a\u7570\u5e38\u3067\u3001\u307e\u3076\u3057\u3055\u3001\u773c\u632f\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u5168\u8272\u76f2\u306a\u3069\u306e\u75c7\u72b6\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u3001\u539f\u56e0\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\",\n  \"cause\": {\n    \"@type\": \"MedicalCause\",\n    \"name\": \"CNGB3\u907a\u4f1d\u5b50\u306e\u5909\u7570\"\n  },\n  \"possibleTreatment\": [\n    {\n      \"@type\": \"MedicalTherapy\",\n      \"name\": \"\u906e\u5149\u30ec\u30f3\u30ba\u3084\u8996\u899a\u88dc\u52a9\u6a5f\u5668\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\"\n    },\n    {\n      \"@type\": \"MedicalTherapy\",\n      \"name\": \"\u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u81e8\u5e8a\u8a66\u9a13\u4e2d\uff09\"\n    }\n  ],\n  \"signOrSymptom\": [\n    { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u7f9e\u660e\uff08Photophobia\uff09\" },\n    { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u773c\u632f\uff08Nystagmus\uff09\" },\n    { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u8996\u529b\u4f4e\u4e0b\uff08Low Visual Acuity\uff09\" },\n    { \"@type\": \"MedicalSignOrSymptom\", \"name\": \"\u5168\u8272\u76f2\uff08Total Color Blindness\uff09\" }\n  ],\n  \"associatedAnatomy\": {\n    \"@type\": \"AnatomicalStructure\",\n    \"name\": \"\u9310\u4f53\u7d30\u80de\uff08Cone Photoreceptors\uff09\"\n  },\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\"\n  }\n}\n<\/script>\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"Article\",\n  \"headline\": \"\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u30fb\u30bf\u30a4\u30d73\uff08Achromatopsia 3\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u6cd5\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": \"CNGB3\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u30fb\u30bf\u30a4\u30d73\u306b\u3064\u3044\u3066\u3001\u75c7\u72b6\u3084\u539f\u56e0\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u9078\u629e\u80a2\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3002\u533b\u7642\u5f93\u4e8b\u8005\u3068\u3054\u5bb6\u65cf\u53cc\u65b9\u306b\u5f79\u7acb\u3064\u60c5\u5831\u3092\u63b2\u8f09\u3057\u3066\u3044\u307e\u3059\u3002\",\n  \"author\": {\n    \"@type\": \"Person\",\n    \"name\": \"HUMEDIT Contents Team\"\n  },\n  \"datePublished\": \"2025-07-01\",\n  \"inLanguage\": \"ja\",\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\"\n  },\n  \"citation\": [\n    \"Pascual-Camps I, et al. Diagnosis and Treatment Options for Achromatopsia. J Pediatr Ophthalmol Strabismus. 2018;55(2):85\u201392. https:\/\/doi.org\/10.3928\/01913913-20171117-01\",\n    \"Kohl S, Hamel CP. Clinical Utility Gene Card for: Achromatopsia. Eur J Hum Genet. 2011;19(6):732. https:\/\/doi.org\/10.1038\/ejhg.2010.231\",\n    \"Andersen MKG, et al. Genetic and Clinical Characterization of Danish Achromatopsia Patients. Genes. 2023;14(3):690. https:\/\/doi.org\/10.3390\/genes14030690\",\n    \"Brunetti-Pierri R, et al. Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study. Int J Mol Sci. 2021;22(4):1681. https:\/\/doi.org\/10.3390\/ijms22041681\",\n    \"Andersen MKG, Kessel L. Ametropia and Emmetropization in CNGB3 Achromatopsia. IOVS. 2021;62(2):10. https:\/\/doi.org\/10.1167\/iovs.62.2.10\",\n    \"Kohl S, et al. Achromatopsia. In: GeneReviews\u00ae [Internet]. University of Washington, Seattle; 2004\u20132018. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/\",\n    \"Perez G, et al. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025;53(D1):D1243-D1249. https:\/\/doi.org\/10.1093\/nar\/gkae974\"\n  ]\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"**\u5168\u8272\u76f2\uff08Achromatopsia\uff09&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/?lang=zh-hans\">\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":[14],"tags":[],"class_list":["post-111965","post","type-post","status-publish","format-standard","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111965","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=111965"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111965\/revisions"}],"predecessor-version":[{"id":118397,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111965\/revisions\/118397"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111965"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111965"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111965"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}