{"id":102802,"date":"2025-07-01T11:44:07","date_gmt":"2025-07-01T02:44:07","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=102802"},"modified":"2026-03-04T10:58:27","modified_gmt":"2026-03-04T01:58:27","slug":"achromatopsia-cngb3-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/","title":{"rendered":"CNGB3\u95a2\u9023\u5148\u5929\u6027\u8272\u899a\u7570\u5e38\uff08\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u30fb\u30bf\u30a4\u30d73\uff09\u3010CNGB3\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 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class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%E8%87%A8%E5%BA%8A%E8%A8%BA%E5%AF%9F\" >\u81e8\u5e8a\u8a3a\u5bdf<\/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\/achromatopsia-cngb3-overview\/#%E8%89%B2%E8%A6%9A%E6%A4%9C%E6%9F%BB\" >\u8272\u899a\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\/achromatopsia-cngb3-overview\/#%E9%9B%BB%E6%B0%97%E7%94%9F%E7%90%86%E6%A4%9C%E6%9F%BB%EF%BC%88ERG%EF%BC%9Aelectroretinogram%EF%BC%89\" >\u96fb\u6c17\u751f\u7406\u691c\u67fb\uff08ERG\uff1aelectroretinogram\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >\u753b\u50cf\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/#%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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/#%E7%8F%BE%E6%99%82%E7%82%B9%E3%81%A7%E3%81%AE%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%88%E7%97%87%E7%8A%B6%E3%82%92%E5%92%8C%E3%82%89%E3%81%92%E3%82%8B%E6%96%B9%E6%B3%95%EF%BC%89\" >\u73fe\u6642\u70b9\u3067\u306e\u5bfe\u75c7\u7642\u6cd5\uff08\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u65b9\u6cd5\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/#%E9%96%8B%E7%99%BA%E4%B8%AD%E3%81%AE%E6%B2%BB%E7%99%82\" >\u958b\u767a\u4e2d\u306e\u6cbb\u7642<\/a><\/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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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\/achromatopsia-cngb3-overview\/#%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    <div class=\"yasashii-summary\">\n  <p>\n    <strong>Achromatopsia\uff08\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff09<\/strong>\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u8272\u3092\u611f\u3058\u308b\u7d30\u80de\u304c\u3046\u307e\u304f\u50cd\u304b\u305a\u3001<strong>\u307e\u3076\u3057\u3055\u3084\u8996\u529b\u306e\u4f4e\u4e0b\u3001\u8272\u304c\u308f\u304b\u3089\u306a\u3044<\/strong>\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u73fe\u308c\u308b\u76ee\u306e\u75c5\u6c17\u3067\u3059\u3002\n  <\/p>\n  <p>\n    \u7279\u306b<strong>CNGB3\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u30bf\u30a4\u30d7\uff08Achromatopsia 3\uff09<\/strong>\u304c\u591a\u304f\u3001\u5b50\u3069\u3082\u306e\u9803\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\n  <\/p>\n  <p>\n    \u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u539f\u56e0\u3084\u75c7\u72b6\u3001\u691c\u67fb\u30fb\u6cbb\u7642\u306e\u65b9\u6cd5\u3001\u5c06\u6765\u306b\u5411\u3051\u305f\u7814\u7a76\u306b\u3064\u3044\u3066\u3001<strong>\u5c02\u9580\u7684\u306a\u5185\u5bb9\u3092\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u89e3\u8aac<\/strong>\u3057\u3066\u3044\u307e\u3059\u3002\u304a\u5b50\u3055\u307e\u306e\u8996\u529b\u3084\u8272\u899a\u306b\u4e0d\u5b89\u306e\u3042\u308b\u65b9\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u306b\u3068\u3063\u3066\u3001\u53c2\u8003\u306b\u306a\u308b\u60c5\u5831\u3067\u3059\u3002\n  <\/p>\n<\/div>\n\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>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>Achromatopsia 3\uff08\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u30fb\u30bf\u30a4\u30d73\uff09\u306f\u3001CNGB3\uff08Cyclic Nucleotide Gated Channel Beta 3\uff1a\u74b0\u72b6\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u4f9d\u5b58\u6027\u967d\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u03b23\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7b2c8\u67d3\u8272\u4f53\u306eq21.3\u3068\u3044\u3046\u5834\u6240\u306b\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CNGB3\u306f\u3001\u9310\u4f53\u7d30\u80de\uff08\u3059\u3044\u305f\u3044\u3055\u3044\u307c\u3046\uff1acone photoreceptor\uff09\u3068\u547c\u3070\u308c\u308b\u76ee\u306e\u5149\u3092\u611f\u3058\u308b\u7d30\u80de\u306e\u50cd\u304d\u306b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u7279\u306b\u3001\u663c\u9593\u306e\u660e\u308b\u3044\u5149\u3084\u8272\u306e\u60c5\u5831\u3092\u96fb\u6c17\u4fe1\u53f7\u306b\u5909\u3048\u308b\u300c\u74b0\u72b6\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u4f9d\u5b58\u6027\u30c1\u30e3\u30cd\u30eb\uff08cyclic nucleotide-gated channel\uff09\u300d\u3092\u4f5c\u308b\u305f\u3081\u306b\u5fc5\u8981\u4e0d\u53ef\u6b20\u306a\u69cb\u6210\u8981\u7d20\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u6697\u3044\u3068\u3053\u308d\u3067\u306f\u958b\u3044\u305f\u72b6\u614b\u3067\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\uff08Na\u207a\uff09\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\uff08Ca\u00b2\u207a\uff09\u3068\u3044\u3063\u305f\u30a4\u30aa\u30f3\u304c\u7d30\u80de\u5185\u306b\u5165\u3063\u3066\u304d\u307e\u3059\u3002\u5149\u304c\u5165\u3063\u3066\u304f\u308b\u3068\u3001\u7d30\u80de\u5185\u306e\u300ccGMP\uff08cyclic guanosine monophosphate\uff09\u300d\u3068\u3044\u3046\u7269\u8cea\u304c\u6e1b\u308a\u3001\u30c1\u30e3\u30cd\u30eb\u304c\u9589\u3058\u308b\u3053\u3068\u3067\u3001\u5149\u304c\u6765\u305f\u3068\u3044\u3046\u5408\u56f3\u304c\u8133\u3078\u4f1d\u308f\u308a\u307e\u3059\u3002CNGB3\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u3053\u306e\u5149\u306e\u5408\u56f3\u3092\u4f5c\u308b\u4ed5\u7d44\u307f\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\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\u75c5\u6c17\u306f\u300cAchromatopsia\uff08\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff09\u300d\u3068\u547c\u3070\u308c\u3001\u65e5\u672c\u8a9e\u3067\u306f\u300c\u5148\u5929\u6027\u8272\u899a\u5168\u76f2\u300d\u3084\u300c\u5168\u8272\u76f2\u300d\u3068\u8a33\u3055\u308c\u307e\u3059\u3002\u7279\u306bCNGB3\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u30bf\u30a4\u30d7\u306f\u3001\u300cAchromatopsia 3\uff08ACHM3\uff09\u300d\u3042\u308b\u3044\u306f\u300cCNGB3\u95a2\u9023\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u300c\u30ed\u30c3\u30c9\u30e2\u30ce\u30af\u30ed\u30de\u30c1\u30ba\u30e0\uff08Rod Monochromacy\u3001\u6746\u4f53\u5358\u8272\u8996\uff09\u300d\u3068\u3082\u547c\u3070\u308c\u3001\u8272\u3092\u611f\u3058\u308b\u9310\u4f53\u7d30\u80de\u304c\u50cd\u304b\u305a\u3001\u6697\u3044\u3068\u3053\u308d\u3067\u4f7f\u3046\u300c\u6746\u4f53\u7d30\u80de\uff08rod photoreceptor\uff09\u300d\u3057\u304b\u50cd\u3044\u3066\u3044\u306a\u3044\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5730\u57df\u306b\u3088\u3063\u3066\u306f\u300cPingelapese blindness\uff08\u30d4\u30f3\u30b2\u30e9\u30c3\u30d7\u5cf6\u306e\u76f2\u76ee\u75c7\uff09\u300d\u3068\u3044\u3046\u5225\u540d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u30df\u30af\u30ed\u30cd\u30b7\u30a2\u306e\u30d4\u30f3\u30b2\u30e9\u30c3\u30d7\u5cf6\u3067CNGB3\u306e\u7279\u5b9a\u306e\u5909\u7570\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u305f\u3081\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>Achromatopsia 3\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u9310\u4f53\u7d30\u80de\u304c\u6b63\u5e38\u306b\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308b\u76ee\u306e\u75c5\u6c17\u3067\u3059\u3002\u663c\u9593\u306e\u660e\u308b\u3044\u5149\u306b\u5bfe\u3059\u308b\u307e\u3076\u3057\u3055\uff08\u7f9e\u660e\uff1aphotophobia\uff09\u3001\u76ee\u306e\u63fa\u308c\uff08\u773c\u632f\uff1anystagmus\uff09\u3001\u8996\u529b\u306e\u4f4e\u4e0b\uff08\u4f4e\u8996\u529b\uff1alow visual acuity\uff09\u3001\u305d\u3057\u3066\u8272\u306e\u8b58\u5225\u304c\u3067\u304d\u306a\u3044\uff08\u8272\u899a\u7570\u5e38\uff1acolor blindness\uff09\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u30013\u7a2e\u985e\u3042\u308b\u9310\u4f53\u7d30\u80de\uff08\u8d64\u30fb\u7dd1\u30fb\u9752\u306e\u5149\u306b\u305d\u308c\u305e\u308c\u53cd\u5fdc\uff09\u3059\u3079\u3066\u304c\u6a5f\u80fd\u3057\u3066\u304a\u3089\u305a\u3001\u300c\u5b8c\u5168\u578b\uff08complete achromatopsia\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u3054\u304f\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u4e00\u90e8\u306e\u9310\u4f53\u7d30\u80de\u304c\u90e8\u5206\u7684\u306b\u50cd\u3044\u3066\u3044\u3066\u300c\u4e0d\u5b8c\u5168\u578b\uff08incomplete achromatopsia\uff09\u300d\u3068\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>Achromatopsia\u306f\u3001\u4e00\u822c\u7684\u306a\u300c\u8272\u5f31\uff08\u8272\u899a\u7570\u5e38\uff09\u300d\u3068\u306f\u7570\u306a\u308a\u3001\u8272\u3092\u307e\u3063\u305f\u304f\u611f\u3058\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u304b\u3001\u6975\u7aef\u306b\u4f4e\u3044\u80fd\u529b\u3057\u304b\u6301\u3061\u307e\u305b\u3093\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/atp6v1b1-related-rta-hearing-loss\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074 <\/div>\n          <div class=\"blog-card-excerpt\">ATP6V1B1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\u306b\u3064\u3044\u3066\u89e3\u8aac\u3002\u75c7\u72b6\u3084\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3092\u3084\u3055\u3057\u304f\u7d39\u4ecb\u3057\u307e\u3059\uff5c\u30d2\u30ed\u30af...<\/div>\n      <\/div>\n    <\/a>\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>Achromatopsia\u306f\u3001\u4e16\u754c\u4e2d\u3067\u304a\u304a\u3088\u305d3\u4e07\u4eba\u304b\u30895\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u307f\u3089\u308c\u308b\u7a00\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4e2d\u3067\u3082CNGB3\u907a\u4f1d\u5b50\u306b\u539f\u56e0\u304c\u3042\u308b\u30bf\u30a4\u30d7\uff08Achromatopsia 3\uff09\u306f\u3001\u7279\u306b\u30e8\u30fc\u30ed\u30c3\u30d1\u7cfb\u306e\u4eba\u3005\u306b\u591a\u304f\u3001\u5168\u4f53\u306e\u7d0460\uff5e70%\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u3002\u6700\u3082\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u75c5\u7684\u5909\u7570\u306f\u300cc.1148delC\u300d\u3068\u547c\u3070\u308c\u3001\u3053\u308c\u3072\u3068\u3064\u3067\u4e16\u754c\u306eAchromatopsia\u306e\u7d0440%\u3092\u8aac\u660e\u3067\u304d\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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>CNGB3\u907a\u4f1d\u5b50\u304c\u75c5\u7684\u306a\u5909\u7570\u3092\u6301\u3064\u3068\u3001\u9310\u4f53\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u306e\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u305a\u3001\u9310\u4f53\u7d30\u80de\u304c\u5149\u3092\u96fb\u6c17\u4fe1\u53f7\u306b\u5909\u3048\u308b\u50cd\u304d\u304c\u5931\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u663c\u9593\u306e\u8996\u529b\u3001\u660e\u308b\u3044\u5834\u6240\u3067\u306e\u898b\u3048\u65b9\u3001\u8272\u306e\u8b58\u5225\u304c\u5927\u304d\u304f\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u7570\u5e38\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u3055\u307e\u3056\u307e\u306a\u7a2e\u985e\u306e\u5909\u7570\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u9014\u4e2d\u3067\u6b62\u307e\u3063\u3066\u3057\u307e\u3046\uff09<\/li>\n\n\n\n<li>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff08\u8aad\u307f\u67a0\u306e\u305a\u308c\uff09<\/li>\n\n\n\n<li>\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570\uff08RNA\u306e\u3064\u306a\u304e\u76ee\u306e\u7570\u5e38\uff09<\/li>\n\n\n\n<li>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u30a2\u30df\u30ce\u9178\u304c\u9593\u9055\u3063\u3066\u5909\u308f\u308b\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u89aa\u306f\u5065\u5eb7\u3067\u3082\u3001\u305d\u308c\u305e\u308c\u304cCNGB3\u907a\u4f1d\u5b50\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_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Achromatopsia 3\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u3068\u304a\u308a\u3067\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5f37\u3044\u307e\u3076\u3057\u3055\uff08photophobia\uff09\uff1a\u660e\u308b\u3044\u5834\u6240\u3067\u76ee\u3092\u958b\u3051\u308b\u306e\u304c\u3064\u3089\u3044\u3068\u611f\u3058\u308b<\/li>\n\n\n\n<li>\u773c\u632f\uff08nystagmus\uff09\uff1a\u76ee\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b<\/li>\n\n\n\n<li>\u8996\u529b\u4f4e\u4e0b\uff08low visual acuity\uff09\uff1a\u5b8c\u5168\u578b\u3067\u306f0.1\u672a\u6e80\uff0820\/200\u4ee5\u4e0b\uff09\u3001\u4e0d\u5b8c\u5168\u578b\u3067\u306f0.3\u7a0b\u5ea6\uff0820\/80\uff09\u306b\u306a\u308b\u3053\u3068\u3082<\/li>\n\n\n\n<li>\u5168\u8272\u76f2\uff08total color blindness\uff09\uff1a\u8d64\u30fb\u7dd1\u30fb\u9752\u306e\u3044\u305a\u308c\u306e\u8272\u3082\u533a\u5225\u3067\u304d\u306a\u3044<\/li>\n\n\n\n<li>\u4e2d\u5fc3\u6697\u70b9\uff08central scotoma\uff09\u3084\u504f\u5fc3\u56fa\u8996\uff08eccentric fixation\uff09\uff1a\u8996\u91ce\u306e\u4e2d\u5fc3\u306b\u898b\u3048\u306b\u304f\u3044\u90e8\u5206\u304c\u3067\u304d\u308b<\/li>\n\n\n\n<li>\u5c48\u6298\u7570\u5e38\uff08refractive error\uff09\uff1a\u9060\u8996\uff08hyperopia\uff09\u3084\u8fd1\u8996\uff08myopia\uff09\u3001\u4e71\u8996\uff08astigmatism\uff09\u304c\u307f\u3089\u308c\u308b<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u3001\u751f\u5f8c\u6570\u9031\u9593\u304b\u3089\u6570\u30f6\u6708\u4ee5\u5185\u306b\u73fe\u308c\u3001\u8996\u529b\u3084\u75c7\u72b6\u306f\u57fa\u672c\u7684\u306b\u5b89\u5b9a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u5c11\u3057\u305a\u3064\u9032\u884c\u3059\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=\"%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=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E5%AF%9F\"><\/span>\u81e8\u5e8a\u8a3a\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5178\u578b\u7684\u306a\u75c7\u72b6\uff08\u5149\u904e\u654f\u3001\u773c\u632f\u3001\u8996\u529b\u4f4e\u4e0b\uff09\u304c\u898b\u3089\u308c\u308b\u4e73\u5150\u306b\u304a\u3044\u3066\u3001\u307e\u305a\u3053\u306e\u75be\u60a3\u3092\u7591\u3044\u307e\u3059\u3002\u554f\u8a3a\u3068\u5bb6\u65cf\u6b74\u306e\u78ba\u8a8d\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%89%B2%E8%A6%9A%E6%A4%9C%E6%9F%BB\"><\/span>\u8272\u899a\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30a1\u30fc\u30f3\u30b9\u30ef\u30fc\u30b9\u30c6\u30b9\u30c8\uff08Farnsworth D-15\uff09\u3084\u30a2\u30ce\u30de\u30ed\u30b9\u30b3\u30fc\u30d7\uff08anomaloscope\uff09\u3092\u7528\u3044\u3066\u8272\u306e\u8b58\u5225\u80fd\u529b\u3092\u6e2c\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9B%BB%E6%B0%97%E7%94%9F%E7%90%86%E6%A4%9C%E6%9F%BB%EF%BC%88ERG%EF%BC%9Aelectroretinogram%EF%BC%89\"><\/span>\u96fb\u6c17\u751f\u7406\u691c\u67fb\uff08ERG\uff1aelectroretinogram\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30eb\u30d5\u30a3\u30fc\u30eb\u30c9ERG\uff08\u7db2\u819c\u5168\u4f53\u306e\u53cd\u5fdc\uff09\uff1a\u5149\u306b\u53cd\u5fdc\u3059\u308b\u9310\u4f53\u7d30\u80de\u306e\u50cd\u304d\u304c\u6975\u7aef\u306b\u5f31\u3044\u304b\u3001\u307e\u3063\u305f\u304f\u53cd\u5fdc\u3057\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>30Hz\u30d5\u30ea\u30c3\u30ab\u30fc\u5fdc\u7b54\uff1a\u5b8c\u5168\u578b\u3067\u306f\u6d88\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e0d\u5b8c\u5168\u578b\u3067\u306f\u304b\u3059\u304b\u306b\u898b\u3089\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=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span>\u753b\u50cf\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff1aOptical Coherence Tomography\uff09\uff1a\u9ec4\u6591\uff08\u8996\u529b\u306e\u4e2d\u5fc3\uff09\u306b\u3042\u308b\u69cb\u9020\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u4e2d\u5fc3\u306e\u69cb\u9020\u304c\u672a\u767a\u9054\uff08\u4e2d\u5fc3\u7aa9\u4f4e\u5f62\u6210\uff1afoveal hypoplasia\uff09\u3067\u3042\u3063\u305f\u308a\u3001\u8996\u7d30\u80de\u306e\u5185\u5916\u7bc0\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u5e95\u81ea\u767a\u86cd\u5149\uff08FAF\uff1aFundus Autofluorescence\uff09\uff1a\u7db2\u819c\u306e\u4ee3\u8b1d\u72b6\u614b\u3084\u30c0\u30e1\u30fc\u30b8\u3092\u8996\u899a\u5316\u3057\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>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001CNGB3\u3092\u542b\u3080\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5b9a\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3067\u3001\u75c5\u6c17\u306e\u30bf\u30a4\u30d7\u3092\u6b63\u78ba\u306b\u5206\u985e\u3057\u3001\u5c06\u6765\u306e\u6cbb\u7642\u3084\u81e8\u5e8a\u8a66\u9a13\u3078\u306e\u53c2\u52a0\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/lgmd2b-dysferlin-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\uff08\u3057\u305f\u3044\u305f\u3044\u304c\u305f \u304d\u3093\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc \u306b\u30fc\u30d3\u30fc\u304c\u305f\uff09\u3010DYSF\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\uff08LGMD2B\uff09\u306e\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u306e\u6d41\u308c\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3002\u4e0d\u5b89\u306a\u65b9\u3078\u306e\u60c5\u5831\u30b5\u30dd\u30fc\u30c8\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=\"%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%E6%99%82%E7%82%B9%E3%81%A7%E3%81%AE%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%88%E7%97%87%E7%8A%B6%E3%82%92%E5%92%8C%E3%82%89%E3%81%92%E3%82%8B%E6%96%B9%E6%B3%95%EF%BC%89\"><\/span>\u73fe\u6642\u70b9\u3067\u306e\u5bfe\u75c7\u7642\u6cd5\uff08\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u65b9\u6cd5\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u906e\u5149\u30ec\u30f3\u30ba\u3084\u8272\u4ed8\u304d\u773c\u93e1\uff1a\u8d64\u3084\u8336\u8272\u306e\u30ec\u30f3\u30ba\u3067\u307e\u3076\u3057\u3055\u3092\u8efd\u6e1b\u3057\u3001\u5c11\u3057\u3067\u3082\u898b\u3084\u3059\u304f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u62e1\u5927\u93e1\u3084\u96fb\u5b50\u6a5f\u5668\uff1a\u8996\u529b\u306e\u5f31\u3055\u3092\u88dc\u3046\u305f\u3081\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6559\u80b2\u7684\u652f\u63f4\uff1a\u6559\u5ba4\u3067\u306f\u524d\u306e\u5e2d\u3092\u78ba\u4fdd\u3057\u3001\u660e\u308b\u3059\u304e\u306a\u3044\u74b0\u5883\u3092\u6574\u3048\u308b\u306a\u3069\u306e\u914d\u616e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/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\"><\/span>\u958b\u767a\u4e2d\u306e\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09\uff1a\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\uff08AAV\uff09\u3092\u7528\u3044\u3066\u3001CNGB3\u907a\u4f1d\u5b50\u306e\u6b63\u5e38\u306a\u30b3\u30d4\u30fc\u3092\u7db2\u819c\u306b\u5c4a\u3051\u308b\u6cbb\u7642\u304c\u81e8\u5e8a\u8a66\u9a13\u4e2d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u6804\u990a\u56e0\u5b50\uff08CNTF\uff09\uff1a\u52d5\u7269\u5b9f\u9a13\u3067\u306f\u52b9\u679c\u304c\u898b\u3089\u308c\u307e\u3057\u305f\u304c\u3001\u4eba\u3067\u306e\u52b9\u679c\u306f\u9650\u5b9a\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30ec\u30c1\u30ce\u30a4\u30c9\u7642\u6cd5\uff08Retinoid Therapy\uff09\uff1a\u7279\u5b9a\u306e\u5909\u7570\u306b\u5bfe\u3057\u3066\u3001\u7d30\u80de\u5185\u306e\u30c1\u30e3\u30cd\u30eb\u6a5f\u80fd\u3092\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5e79\u7d30\u80de\u7642\u6cd5\uff08Stem Cell Therapy\uff09\uff1a\u7db2\u819c\u306b\u65b0\u3057\u3044\u7d30\u80de\u3092\u79fb\u690d\u3059\u308b\u7814\u7a76\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u5b9f\u9a13\u6bb5\u968e\u3067\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>Achromatopsia 3\u306f\u3001\u4f1d\u7d71\u7684\u306b\u306f\u300c\u9032\u884c\u3057\u306a\u3044\uff08stationary\uff09\u300d\u3068\u8003\u3048\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u52a0\u9f62\u3068\u3068\u3082\u306b\u3086\u3063\u304f\u308a\u3068\u8996\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u305f\u308a\u3001\u7db2\u819c\u306e\u69cb\u9020\u306b\u5909\u5316\u304c\u51fa\u3066\u304f\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3068\u304f\u306b\u82e5\u5e74\u671f\u306b\u6cbb\u7642\u3092\u53d7\u3051\u308b\u65b9\u304c\u52b9\u679c\u304c\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u975e\u5e38\u306b\u5927\u5207\u3067\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<p><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u3088\u3046\u306a\u3082\u306e\u3002\u304a\u7236\u3055\u3093\u3068\u304a\u6bcd\u3055\u3093\u304b\u3089\u534a\u5206\u305a\u3064\u53d7\u3051\u3064\u3044\u3067\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u306e\u7279\u5fb4\u3084\u50cd\u304d\u3092\u6c7a\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<br><\/strong> \u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u300c\u96a0\u308c\u305f\u5909\u7570\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u3068\u3001\u5b50\u3069\u3082\u306b\u305d\u306e\u75c5\u6c17\u304c\u3042\u3089\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e21\u89aa\u306f\u5143\u6c17\u3067\u3082\u3001\u5b50\u3069\u3082\u306b\u3060\u3051\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>CNGB3\u907a\u4f1d\u5b50\uff08CNGB3 Gene\uff09<\/strong><strong><br><\/strong> \u76ee\u306e\u4e2d\u3067\u5149\u3092\u611f\u3058\u308b\u300c\u9310\u4f53\u7d30\u80de\uff08\u3059\u3044\u305f\u3044\u3055\u3044\u307c\u3046\uff09\u300d\u3068\u3044\u3046\u7d30\u80de\u304c\u3046\u307e\u304f\u50cd\u304f\u305f\u3081\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u554f\u984c\u304c\u3042\u308b\u3068\u3001\u8272\u304c\u308f\u304b\u3089\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u660e\u308b\u3044\u5149\u304c\u82e6\u624b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff08Achromatopsia\uff09<\/strong><strong><br><\/strong> \u751f\u307e\u308c\u3064\u304d\u300c\u8272\u300d\u3092\u611f\u3058\u308b\u7d30\u80de\u304c\u50cd\u304b\u306a\u3044\u76ee\u306e\u75c5\u6c17\u3067\u3059\u3002\u8272\u306e\u533a\u5225\u304c\u3067\u304d\u305a\u3001\u307e\u3076\u3057\u3055\u3084\u8996\u529b\u306e\u4f4e\u4e0b\u306a\u3069\u306e\u75c7\u72b6\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5b8c\u5168\u578b\uff08Complete Achromatopsia\uff09<\/strong><strong><br><\/strong> \u8272\u3092\u611f\u3058\u308b\u7d30\u80de\u304c\u307e\u3063\u305f\u304f\u50cd\u304b\u306a\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002\u8996\u529b\u304c\u3068\u3066\u3082\u4f4e\u304f\u3001\u8272\u304c\u307e\u3063\u305f\u304f\u308f\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4e0d\u5b8c\u5168\u578b\uff08Incomplete Achromatopsia\uff09<\/strong><strong><br><\/strong> \u8272\u3092\u611f\u3058\u308b\u7d30\u80de\u306e\u4e00\u90e8\u304c\u5c11\u3057\u3060\u3051\u50cd\u3044\u3066\u3044\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\u5b8c\u5168\u578b\u3088\u308a\u306f\u75c7\u72b6\u304c\u8efd\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7f9e\u660e\uff08Photophobia\uff09<\/strong><strong><br><\/strong> \u5149\u306b\u3068\u3066\u3082\u654f\u611f\u306b\u306a\u3063\u3066\u3057\u307e\u3044\u3001\u307e\u3076\u3057\u304f\u3066\u76ee\u3092\u958b\u3051\u308b\u306e\u304c\u3064\u3089\u3044\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u773c\u632f\uff08Nystagmus\uff09<\/strong><strong><br><\/strong> \u76ee\u304c\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u5c0f\u523b\u307f\u306b\u52d5\u304f\u75c7\u72b6\u3067\u3059\u3002\u751f\u307e\u308c\u3066\u3059\u3050\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8996\u529b\u4f4e\u4e0b\uff08Low Visual Acuity\uff09<\/strong><strong><br><\/strong> \u3082\u306e\u304c\u306f\u3063\u304d\u308a\u898b\u3048\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u3002\u30e1\u30ac\u30cd\u3067\u306f\u3042\u307e\u308a\u6539\u5584\u3057\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5168\u8272\u76f2\uff08Total Color Blindness\uff09<\/strong><strong><br><\/strong> \u8d64\u30fb\u9752\u30fb\u7dd1\u306a\u3069\u3001\u3059\u3079\u3066\u306e\u8272\u306e\u9055\u3044\u304c\u308f\u304b\u3089\u306a\u304f\u306a\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6746\u4f53\u7d30\u80de\uff08Rod Photoreceptor\uff09<\/strong><strong><br><\/strong> \u6697\u3044\u5834\u6240\u3067\u898b\u3048\u308b\u3088\u3046\u306b\u50cd\u304f\u76ee\u306e\u7d30\u80de\u3067\u3059\u3002\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u306e\u4eba\u306f\u3001\u8272\u3092\u898b\u308b\u7d30\u80de\uff08\u9310\u4f53\u7d30\u80de\uff09\u304c\u50cd\u304b\u306a\u3044\u4ee3\u308f\u308a\u306b\u3001\u3053\u306e\u6746\u4f53\u7d30\u80de\u3060\u3051\u304c\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u96fb\u6c17\u751f\u7406\u691c\u67fb\u30fbERG\uff08Electroretinogram\uff09<\/strong><strong><br><\/strong> \u76ee\u306e\u7d30\u80de\u304c\u5149\u306b\u3069\u3046\u53cd\u5fdc\u3059\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u8d64\u3061\u3083\u3093\u3084\u5b50\u3069\u3082\u3067\u3082\u5b89\u5168\u306b\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>OCT\uff08Optical Coherence Tomography\uff09<\/strong><strong><br><\/strong> \u76ee\u306e\u4e2d\u3092CT\u306e\u3088\u3046\u306b\u8a73\u3057\u304f\u8abf\u3079\u308b\u753b\u50cf\u691c\u67fb\u3067\u3059\u3002\u8996\u529b\u306e\u4e2d\u5fc3\u306b\u3042\u308b\u90e8\u5206\u304c\u6b63\u3057\u304f\u80b2\u3063\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u304c\u308f\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08Genetic Testing\uff09<\/strong><strong><br><\/strong> \u8840\u6db2\u306a\u3069\u304b\u3089DNA\u3092\u8abf\u3079\u3066\u3001\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u305f\u3081\u306b\u3068\u3066\u3082\u5927\u5207\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09<\/strong><strong><br><\/strong> \u554f\u984c\u306e\u3042\u308b\u907a\u4f1d\u5b50\u306e\u4ee3\u308f\u308a\u306b\u3001\u6b63\u3057\u304f\u50cd\u304f\u907a\u4f1d\u5b50\u3092\u76ee\u306e\u4e2d\u306b\u5165\u308c\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u307e\u3060\u7814\u7a76\u4e2d\u3067\u3059\u304c\u3001\u5c06\u6765\u306e\u6cbb\u7642\u3068\u3057\u3066\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u906e\u5149\u30ec\u30f3\u30ba\uff08Tinted Lenses\uff09<\/strong><strong><br><\/strong> \u307e\u3076\u3057\u3055\u3092\u3084\u308f\u3089\u3052\u308b\u305f\u3081\u306b\u4f7f\u3046\u8272\u4ed8\u304d\u306e\u3081\u304c\u306d\u3084\u30b5\u30f3\u30b0\u30e9\u30b9\u3067\u3059\u3002\u8d64\u3084\u8336\u8272\u306e\u30ec\u30f3\u30ba\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u62e1\u5927\u93e1\u30fb\u88dc\u52a9\u6a5f\u5668\uff08Visual Aids\uff09<\/strong><strong><br><\/strong> \u5c0f\u3055\u306a\u6587\u5b57\u3084\u7269\u3092\u898b\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u9053\u5177\u3067\u3059\u3002\u30bf\u30d6\u30ec\u30c3\u30c8\u3084\u62e1\u5927\u8aad\u66f8\u6a5f\u306a\u3069\u3082\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7d4c\u904e\u89b3\u5bdf\uff08Regular Follow-up\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u304c\u9032\u3093\u3067\u3044\u306a\u3044\u304b\u3092\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u7279\u306b\u6cbb\u7642\u3084\u5b66\u7fd2\u652f\u63f4\u3092\u53d7\u3051\u308b\u305f\u3081\u306b\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\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, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \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":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 Achromatopsi&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/\">\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":[394],"tags":[],"class_list":["post-102802","post","type-post","status-publish","format-standard","hentry","category-uncategorized-2"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/102802","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=102802"}],"version-history":[{"count":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/102802\/revisions"}],"predecessor-version":[{"id":125341,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/102802\/revisions\/125341"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=102802"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=102802"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=102802"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}