{"id":121883,"date":"2026-01-07T17:59:30","date_gmt":"2026-01-07T08:59:30","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121883"},"modified":"2026-03-03T17:53:48","modified_gmt":"2026-03-03T08:53:48","slug":"achromatopsia-cnbg3-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achromatopsia-cnbg3-related\/","title":{"rendered":"\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff08CNGB3\u95a2\u9023\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff08\u5148\u5929\u6027\u8272\u899a\u7570\u5e38\u30fb\u6746\u4f53\u5358\u8272\u8996\u306e\u4e00\u7fa4\uff09\u306f\u3001<strong>\u9310\u4f53\uff08cone\uff09\u8996\u7d30\u80de\u306e\u6a5f\u80fd\u4f4e\u4e0b<\/strong>\u306b\u3088\u308a\u3001\u51fa\u751f\u65e9\u671f\u304b\u3089<strong>\u5f37\u3044\u7f9e\u660e\uff08\u307e\u3076\u3057\u3055\uff09<\/strong>\u3001<strong>\u773c\u632f<\/strong>\u3001<strong>\u8996\u529b\u4f4e\u4e0b<\/strong>\u3001**\u8272\u899a\u306e\u8457\u3057\u3044\u4f4e\u4e0b\uff08\u307e\u305f\u306f\u6d88\u5931\uff09**\u3092\u5448\u3059\u308b\u907a\u4f1d\u6027\u7db2\u819c\u75be\u60a3\u3067\u3059\u3002\u591a\u304f\u306f\u300c\u975e\u9032\u884c\u6027\u301c\u7de9\u5f90\u9032\u884c\u6027\u300d\u3068\u3055\u308c\u3001\u65e5\u4e2d\u306e\u898b\u3048\u306b\u304f\u3055\u304c\u5f37\u3044\u4e00\u65b9\u3001\u6697\u6240\u8996\uff08\u6746\u4f53\u6a5f\u80fd\uff09\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p>CNGB3\u95a2\u9023\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u306f\u3001\u9310\u4f53\u306b\u5b58\u5728\u3059\u308b<strong>\u74b0\u72b6\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u4f9d\u5b58\u6027\uff08CNG\uff09\u30c1\u30e3\u30cd\u30eb<\/strong>\u306e\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3059\u308b<strong>CNGB3\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002CNGB3\u306fCNGA3\u306a\u3069\u3068\u3068\u3082\u306b\u9310\u4f53\u306e\u5149\u53d7\u5bb9\uff08phototransduction\uff09\u306b\u5fc5\u9808\u3067\u3001\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u9310\u4f53\u306e\u96fb\u6c17\u5fdc\u7b54\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/achromatopsia\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u306e\u6709\u75c5\uff08\u767a\u75c7\uff09\u983b\u5ea6\u306f\u3001\u4e00\u822c\u306b<strong>\u7d041\/30,000\u301c1\/50,000<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/5201269?utm_source=chatgpt.com\">Nature<\/a>)<br>\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u306f<strong>CNGB3\u3068CNGA3\u304c\u6700\u3082\u591a\u304f<\/strong>\u3001CNGB3\u5909\u7570\u306f\u96c6\u56e3\u306b\u3088\u3063\u3066\u5dee\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u75c7\u4f8b\u306e**\u7d0440\u301c50%**\u3092\u5360\u3081\u308b\u3068\u3059\u308b\u8cc7\u6599\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/download\/genetics\/gene\/cngb3.pdf?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u75c5\u56e0<\/strong><\/h3>\n\n\n\n<p>CNGB3\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u3001\u9310\u4f53\u306eCNG\u30c1\u30e3\u30cd\u30eb\u304c\u6b63\u5e38\u306b\u50cd\u304b\u305a\u3001\u5149\u523a\u6fc0\u3092\u795e\u7d4c\u4fe1\u53f7\u3078\u5909\u63db\u3059\u308b\u904e\u7a0b\uff08phototransduction\uff09\u304c\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u8272\u899a\u4f4e\u4e0b\u30fb\u8996\u529b\u4f4e\u4e0b\u30fb\u7f9e\u660e\u30fb\u773c\u632f\u306a\u3069\u306e\u75c7\u72b6\u304c\u751f\u3058\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/achromatopsia\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n<p>\u591a\u304f\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3067\u3001\u4e21\u89aa\u305d\u308c\u305e\u308c\u304b\u3089\u75c5\u7684\u5909\u7570\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u529b\u4f4e\u4e0b<\/strong>\uff08\u5c0f\u5150\u671f\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u7f9e\u660e\uff08\u5f37\u3044\u307e\u3076\u3057\u3055\uff09<\/strong>\uff1a\u660e\u308b\u3044\u5834\u6240\u3067\u898b\u3048\u306b\u304f\u3044 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u773c\u632f<\/strong>\uff1a\u51fa\u751f\u5f8c\u65e9\u671f\uff08\u6570\u9031\u4ee5\u5185\uff09\u304b\u3089\u51fa\u73fe\u3059\u308b\u3053\u3068\u304c\u591a\u3044 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u8272\u899a\u306e\u8457\u3057\u3044\u4f4e\u4e0b\uff0f\u6b20\u5982<\/strong>\uff08\u5b8c\u5168\u578b\u301c\u4e0d\u5b8c\u5168\u578b\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u5c48\u6298\u7570\u5e38<\/strong>\uff08\u9060\u8996\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3068\u3055\u308c\u308b\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u4e2d\u5fc3\u6697\u70b9\u30fb\u56fa\u8996\u7570\u5e38\uff08\u504f\u5fc3\u56fa\u8996\uff09\u306a\u3069 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u203bCNGB3\u306e\u4e00\u90e8\u5909\u7570\u3067\u306f\u3001\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u3060\u3051\u3067\u306a\u304f<strong>\u9032\u884c\u6027\u306e\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/strong>\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u3082\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/cngb3\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u3068\u773c\u79d1\u691c\u67fb\u6240\u898b\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u6240\u898b<\/strong>\uff1a\u7f9e\u660e\u3001\u773c\u632f\u3001\u4f4e\u8996\u529b\u3001\u8272\u899a\u969c\u5bb3\u306a\u3069 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u96fb\u6c17\u751f\u7406\uff08ERG\uff09<\/strong>\uff1a\u9310\u4f53\u7cfb\u306e\u53cd\u5fdc\u4f4e\u4e0b\uff08\u6746\u4f53\u7cfb\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b\uff09\u306a\u3069\u304c\u8a3a\u65ad\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\uff08\u65bd\u8a2d\u306b\u3088\u308a\u5b9f\u65bd\uff09\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u753b\u50cf\u691c\u67fb<\/strong>\uff1aOCT\u306a\u3069\u3067\u9ec4\u6591\u90e8\u306e\u69cb\u9020\u8a55\u4fa1\uff08\u75c5\u671f\u3084\u500b\u4f53\u5dee\u3042\u308a\uff09\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1a<strong>CNGB3\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a<\/strong>\u306b\u3088\u308a\u3001CNGB3\u95a2\u9023\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u306e\u78ba\u5b9a\u8a3a\u65ad\u30fb\u5bb6\u65cf\u5185\u8a55\u4fa1\u306b\u6709\u7528\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u3001\u6a19\u6e96\u6cbb\u7642\u3068\u3057\u3066\u78ba\u7acb\u3057\u305f\u6839\u6cbb\u7642\u6cd5\u306f\u9650\u3089\u308c\u3001\u57fa\u672c\u306f<strong>\u5bfe\u75c7\u7642\u6cd5\u30fb\u8996\u899a\u88dc\u52a9<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u906e\u5149<\/strong>\uff1a\u906e\u5149\u773c\u93e1\u30fb\u30d5\u30a3\u30eb\u30bf\u30fc\u30ec\u30f3\u30ba\u3001\u5e3d\u5b50\u306a\u3069\u3067\u7f9e\u660e\u3092\u8efd\u6e1b (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u5c48\u6298\u77ef\u6b63<\/strong>\uff1a\u773c\u93e1\u30fb\u30b3\u30f3\u30bf\u30af\u30c8\u3067\u8996\u6a5f\u80fd\u3092\u6700\u9069\u5316 (<a href=\"https:\/\/retinatoday.com\/articles\/2025-july-aug\/top-irds-to-watch-achromatopsia?utm_source=chatgpt.com\">Retina Today<\/a>)<\/li>\n\n\n\n<li><strong>\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2<\/strong>\uff1a\u62e1\u5927\u93e1\u3001\u7aef\u672b\u8a2d\u5b9a\u3001\u6559\u80b2\u30fb\u5c31\u52b4\u652f\u63f4\u306a\u3069 (<a href=\"https:\/\/retinatoday.com\/articles\/2025-july-aug\/top-irds-to-watch-achromatopsia?utm_source=chatgpt.com\">Retina Today<\/a>)<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u907a\u4f1d\u5f62\u5f0f\uff08\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff09\u306b\u57fa\u3065\u304f\u518d\u767a\u30ea\u30b9\u30af\u8aac\u660e\u7b49 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001<strong>CNGB3\u3092\u5bfe\u8c61\u3068\u3057\u305f\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\u306f\u81e8\u5e8a\u7814\u7a76\u304c\u884c\u308f\u308c\u3066\u3044\u307e\u3059\uff08\u6cbb\u7642\u3068\u3057\u3066\u4e00\u822c\u5316\u3057\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u53c2\u52a0\u6761\u4ef6\u30fb\u5b9f\u65bd\u65bd\u8a2d\u304c\u9650\u3089\u308c\u307e\u3059\uff09\u3002 (<a href=\"https:\/\/www.clinicaltrials.gov\/study\/NCT03001310?utm_source=chatgpt.com\">\u81e8\u5e8a\u8a66\u9a13.gov<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>GeneReviews\u00ae\u300cAchromatopsia\u300d\u2014 \u81e8\u5e8a\u50cf\u3001\u8a3a\u65ad\u3001\u907a\u4f1d\u5f62\u5f0f\u3001\u7ba1\u7406\u306e\u7dcf\u8aac\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>MedlinePlus Genetics\u300cAchromatopsia\u300d\u2014 \u539f\u56e0\u907a\u4f1d\u5b50\uff08CNGA3\/CNGB3\uff09\u3068\u75c5\u614b\u306e\u89e3\u8aac\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/achromatopsia\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/li>\n\n\n\n<li>MedlinePlus Genetics\u300cCNGB3 gene\u300d\u2014 CNGB3\u306e\u6a5f\u80fd\u3068\u8868\u73fe\u578b\u306e\u8a18\u8f09\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/cngb3\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/li>\n\n\n\n<li>Wissinger B, et al. <em>Nat Genet<\/em>\uff08CNGB3\u5909\u7570\u306e\u983b\u5ea6\u30fb\u96c6\u56e3\u30c7\u30fc\u30bf\u30011\/30,000\u20131\/50,000\u63a8\u5b9a\u306a\u3069\uff09\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/5201269?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li>CNGB3\u907a\u4f1d\u5b50\u5909\u7570\u304c\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u75c7\u4f8b\u306e\u7d04\u534a\u6570\u306b\u95a2\u4e0e\u3059\u308b\u65e8\u306e\u5831\u544a\uff08PubMed\uff09\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/15657609\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121883","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121883","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121883\/revisions"}],"predecessor-version":[{"id":125312,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121883\/revisions\/125312"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121883"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}