{"id":121766,"date":"2026-01-07T17:00:21","date_gmt":"2026-01-07T08:00:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121766"},"modified":"2026-03-04T09:23:00","modified_gmt":"2026-03-04T00:23:00","slug":"retinal-dystrophy-rlbr","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbr\/","title":{"rendered":"RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc (\u30dc\u30b9\u30cb\u30a2\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3001\u7db2\u819c\u306e\u8996\u899a\u30b5\u30a4\u30af\u30eb\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b <strong>\u7d30\u80de\u6027\u30ec\u30c1\u30ca\u30fc\u30eb\u30c7\u30d2\u30c9\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\uff08CRALBP\uff09<\/strong> \u3092\u30b3\u30fc\u30c9\u3059\u308b <strong>RLBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong> \u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b<strong>\u9032\u884c\u6027\u306e\u7db2\u819c\u75be\u60a3<\/strong>\u3067\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3001\u5e7c\u5c11\u671f\u304b\u3089\u591c\u76f2\u304c\u51fa\u73fe\u3057\u3001\u8996\u529b\u4f4e\u4e0b\u30fb\u8996\u91ce\u6b20\u640d\u304c\u9032\u884c\u3057\u3066\u3044\u304f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002RLBP1\u95a2\u9023\u75be\u60a3\u306f\u3001Bothnia\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u7db2\u819c\u767d\u70b9\u75c7\uff08retinitis punctata albescens\uff09\u3001\u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306a\u3069\u306e\u8868\u73fe\u578b\u3092\u542b\u3080\u5e83\u3044\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u7db2\u819c\u75be\u60a3<\/strong> \u3067\u3059\u3002RLBP1\u5909\u7570\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u306f\u3001\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u307e\u3067\u306b\u7d04160\u4f8b\u7a0b\u5ea6\u304c\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u591a\u304f\u306f <strong>\u5317\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\uff08V\u00e4sterbotten\u90e1\uff09<\/strong> \u3084 <strong>\u30ab\u30ca\u30c0\u30fb\u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9<\/strong> \u306e\u96c6\u56e3\u3067\u9ad8\u3044\u5831\u544a\u6570\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10615144\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001<strong>RLBP1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570<\/strong> \u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002RLBP1\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e15\u756a\u67d3\u8272\u4f53\uff0815q26.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\u3067\u91cd\u8981\u306a <strong>\u7d30\u80de\u6027\u30ec\u30c1\u30ca\u30fc\u30eb\u30c7\u30d2\u30c9\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\uff08CRALBP\uff09<\/strong> \u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002CRALBP\u306f\u8996\u7d30\u80de\u304b\u3089\u30ec\u30c1\u30ca\u30fc\u30eb\u3092\u53d6\u308a\u8fbc\u307f\u3001\u8996\u899a\u30d4\u30b0\u30e1\u30f3\u30c8\u518d\u751f\u3092\u4fc3\u9032\u3059\u308b\u6a5f\u80fd\u3092\u6301\u3061\u3001<strong>\u687f\u4f53\u30fb\u9310\u4f53\u8996\u7d30\u80de\u4e21\u65b9\u306e\u6a5f\u80fd\u7dad\u6301\u306b\u91cd\u8981<\/strong>\u3067\u3059\u3002\u3053\u308c\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\u304c\u6ede\u308a\u3001\u5149\u523a\u6fc0\u3078\u306e\u9069\u5fdc\u3084\u8996\u7d30\u80de\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f <strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong> \u3067\u3042\u308a\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/bothnia_retinal_dystrophy?utm_source=chatgpt.com\">malacards.org<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3001\u4e3b\u306b<strong>\u8996\u6a5f\u80fd\u306e\u6f38\u9032\u6027\u4f4e\u4e0b<\/strong>\u3092\u6765\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u521d\u671f\u75c7\u72b6\uff08\u5e7c\u5c11\u671f\uff09<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591c\u76f2\uff08\u6697\u9806\u5fdc\u7570\u5e38\uff09<\/strong>\uff1a\u6697\u6240\u3067\u306e\u8996\u529b\u4f4e\u4e0b\u3084\u6697\u9806\u5fdc\u306e\u9045\u5ef6\u304c\u521d\u767a\u75c7\u72b6\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li>\u8996\u91ce\u72ed\u7a84\uff08\u5468\u8fba\u8996\u91ce\u306e\u6b20\u640d\uff09\u3084\u8272\u8a8d\u8b58\u306e\u554f\u984c\u3002(<a href=\"https:\/\/jamanetwork.com\/journals\/jamaophthalmology\/fullarticle\/426081?utm_source=chatgpt.com\">JAMA\u30cd\u30c3\u30c8\u30ef\u30fc\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u9032\u884c\u671f\uff08\u601d\u6625\u671f\u301c\u6210\u4eba\u671f\uff09<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u529b\u4f4e\u4e0b<\/strong>\uff1a\u4e2d\u5fc3\u8996\u529b\u306e\u4f4e\u4e0b\u304c\u9032\u884c\u3057\u3001\u65e9\u671f\u6210\u4eba\u671f\u307e\u3067\u306b\u6cd5\u7684\u5931\u660e\u306b\u81f3\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/bothnia_retinal_dystrophy?utm_source=chatgpt.com\">malacards.org<\/a>)<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u7db2\u819c\u50cf\uff1a\u5f8c\u6975\u90e8\u306b\u767d\u8272\u6591\u70b9\uff08retinitis punctata albescens\uff09\u3084\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u5909\u6027\u304c\u898b\u3089\u308c\u307e\u3059\u3002(<a href=\"https:\/\/jamanetwork.com\/journals\/jamaophthalmology\/fullarticle\/426081?utm_source=chatgpt.com\">JAMA\u30cd\u30c3\u30c8\u30ef\u30fc\u30af<\/a>)<\/li>\n\n\n\n<li>\u7db2\u819c\u4e2d\u592e\u90e8\u301c\u5468\u8fba\u90e8\u306e<strong>\u7db2\u819c\u5c64\u306e\u8584\u5316<\/strong>\u3084\u8272\u7d20\u5909\u6027\u306e\u9032\u884c\u3002(<a href=\"https:\/\/jamanetwork.com\/journals\/jamaophthalmology\/fullarticle\/426081?utm_source=chatgpt.com\">JAMA\u30cd\u30c3\u30c8\u30ef\u30fc\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u9032\u884c\u901f\u5ea6\u306f\u5909\u7570\u578b\u306b\u3088\u308a\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22551409\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u8a3a\u65ad\u306f\u3001\u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u308a\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>1. \u81e8\u5e8a\u6240\u898b<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6697\u9806\u5fdc\u7570\u5e38\u3001\u591c\u76f2\u306e\u75c5\u6b74<\/li>\n\n\n\n<li>\u8996\u529b\u691c\u67fb\u3067\u306e\u4f4e\u4e0b\u3001\u8996\u91ce\u691c\u67fb\u3067\u306e\u8996\u91ce\u6b20\u640d<\/li>\n\n\n\n<li>\u691c\u773c\u93e1\u691c\u67fb\u3067\u306e\u767d\u8272\u6591\u70b9\u3084\u8272\u7d20\u5909\u5316<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>2. \u773c\u5e95\u753b\u50cf\u691c\u67fb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09\u306b\u3088\u308b\u7db2\u819c\u5c64\u69cb\u9020\u7570\u5e38\u30fb\u8584\u5316\u306e\u8a55\u4fa1<\/li>\n\n\n\n<li>\u81ea\u7136\u767a\u5149\u773c\u5e95\u5199\u771f\u3067\u306e\u767d\u70b9\u6591\u3084\u8272\u7d20\u5909\u6027<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>3. \u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u96fb\u6c17\u7db2\u819c\u56f3\uff08ERG\uff09\u3067\u687f\u4f53\u30fb\u9310\u4f53\u6a5f\u80fd\u4f4e\u4e0b\u3092\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>4. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/h3>\n\n\n\n<p><strong>RLBP1\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad<\/strong>\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u75c5\u6b74\u3084\u5bb6\u65cf\u6b74\u3092\u88dc\u5b8c\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u6709\u7528\u3067\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10615144\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001<strong>\u78ba\u7acb\u3055\u308c\u305f\u6839\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f\u4e3b\u306b\u8996\u6a5f\u80fd\u7dad\u6301\u3068\u75c7\u72b6\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8996\u529b\u652f\u63f4<\/strong>\uff1a\u8996\u899a\u88dc\u52a9\u5177\u3001\u74b0\u5883\u8abf\u6574<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76<\/strong>\uff1aRLBP1\u5909\u7570\u306b\u5bfe\u3059\u308bAAV\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u81e8\u5e8a\u8a66\u9a13\u6bb5\u968e\u3067\u5b89\u5168\u6027\u30fb\u6709\u52b9\u6027\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.nature.com\/articles\/s41467-024-51575-4?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li>\u9032\u884c\u4e88\u9632\u3084\u5408\u4f75\u75c7\u7ba1\u7406\u306e\u305f\u3081\u306e\u5b9a\u671f\u7684\u306a\u773c\u79d1\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n<p>\u73fe\u5728\u306e\u6a19\u6e96\u6cbb\u7642\u306f\u8996\u6a5f\u80fd\u7dad\u6301\u306e\u305f\u3081\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u751f\u6d3b\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Bothnia dystrophy\uff09\u306e\u75be\u60a3\u6982\u8981\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u30fb\u7ba1\u7406\u60c5\u5831 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li>Burstedt MS \u307b\u304b, <em>Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.<\/em> <em>Arch Ophthalmol.<\/em> 2001;119(2):260\u20137.(<a href=\"https:\/\/jamanetwork.com\/journals\/jamaophthalmology\/fullarticle\/265439?utm_source=chatgpt.com\">JAMA\u30cd\u30c3\u30c8\u30ef\u30fc\u30af<\/a>)<\/li>\n\n\n\n<li>Burstedt M \u307b\u304b, <em>Central retinal findings in Bothnia dystrophy caused by RLBP1 mutation.<\/em> <em>JAMA Ophthalmol.<\/em> 2010.(<a href=\"https:\/\/jamanetwork.com\/journals\/jamaophthalmology\/fullarticle\/426081?utm_source=chatgpt.com\">JAMA\u30cd\u30c3\u30c8\u30ef\u30fc\u30af<\/a>)<\/li>\n\n\n\n<li>Generic review of RLBP1-associated retinal dystrophies including retinitis punctata albescens and Bothnia dystrophy, <em>PubMed Central (PMC).<\/em>(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10615144\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>Bothnia Retinal Dystrophy \u2014 \u30ec\u30a2\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9 <em>Malacards<\/em> \u3088\u308a\u3002(<a href=\"https:\/\/www.malacards.org\/card\/bothnia_retinal_dystrophy?utm_source=chatgpt.com\">malacards.org<\/a>)<\/li>\n\n\n\n<li>Kvanta A \u307b\u304b, <em>Interim safety and efficacy of gene therapy for RLBP1-related retinal dystrophy.<\/em> <em>Nat Commun.<\/em> 2024.(<a href=\"https:\/\/www.nature.com\/articles\/s41467-024-51575-4?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121766","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\/121766","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121766\/revisions"}],"predecessor-version":[{"id":125320,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121766\/revisions\/125320"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121766"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}