{"id":33636,"date":"2022-07-11T17:24:53","date_gmt":"2022-07-11T08:24:53","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33636"},"modified":"2026-05-08T11:45:46","modified_gmt":"2026-05-08T02:45:46","slug":"retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/","title":{"rendered":"\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Bothnia\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u7db2\u819c\u767d\u70b9\u75c7\u3001\u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306a\u3069\uff09\u306f\u3001\u8996\u7d30\u80de\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u5e7c\u5c11\u671f\u304b\u3089\u591c\u76f2\u304c\u59cb\u307e\u308a\u3001\u8996\u529b\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3001\u6210\u4eba\u671f\u306b\u306f\u6cd5\u7684\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002RLBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u3001\u6697\u9806\u5fdc\u306e\u5927\u5e45\u306a\u9045\u5ef6\u3084\u7db2\u819c\u306e\u5909\u6027\u304c\u9032\u884c\u3057\u307e\u3059\u3002\u73fe\u5728\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u65e9\u671f\u306e\u6cbb\u7642\u4ecb\u5165\u304c\u5c06\u6765\u306e\u8996\u529b\u7dad\u6301\u306b\u8ca2\u732e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u6700\u65b0\u306e\u8a3a\u65ad\u65b9\u6cd5\u3084\u7ba1\u7406\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>RLBP1\uff5cRetinal Dystrophy (RLBP1-related) <\/p>\n\n\n\n<p><sup>Bothnia Retinal Dystrophy<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>RLBP1\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308b\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Bothnia\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\uff09\u306f\u3001\u8996\u7d30\u80de\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u5e7c\u5c11\u671f\u304b\u3089\u306e\u591c\u76f2\u3001\u8996\u529b\u306e\u4f4e\u4e0b\u3001\u6210\u4eba\u671f\u306b\u306f\u6cd5\u7684\u5931\u660e\u306b\u81f3\u308b\u9032\u884c\u6027\u306e\u8996\u899a\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002RLBP1\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u6027\u30ec\u30c1\u30ca\u30fc\u30eb\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\uff08CRALBP\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3044\u300111-\u30b7\u30b9-\u30ec\u30c1\u30ca\u30fc\u30eb\u306e\u518d\u751f\u3092\u4fc3\u9032\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\u304c\u6a5f\u80fd\u4e0d\u5168\u3092\u8d77\u3053\u3057\u3001\u91cd\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3001\u4e16\u754c\u4e2d\u3067\u7d04160\u4f8b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5730\u7406\u7684\u306b\u7279\u5b9a\u306e\u5730\u57df\u306b\u591a\u304f\u898b\u3089\u308c\u3001Bothnia\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\u5317\u90e8\u3001\u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u30ab\u30ca\u30c0\u306e\u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9\u5dde\u306b\u96c6\u4e2d\u3057\u3066\u3044\u307e\u3059\u3002\u7db2\u819c\u767d\u70b9\u75c7\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u7d041\uff05\u3092\u5360\u3081\u3001\u63a8\u5b9a\u767a\u751f\u7387\u306f80\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>RLBP1\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f5315q26.1\u306b\u4f4d\u7f6e\u3057\u3001CRALBP\uff0836 kDa\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002CRALBP\u306f\u3001\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\uff08RPE\uff09\u3068\u30df\u30e5\u30e9\u30fc\u7d30\u80de\u3067\u767a\u73fe\u3057\u3001\u8996\u7d30\u80de\u306e\u5149\u5909\u63db\u306b\u5fc5\u8981\u306a11-\u30b7\u30b9-\u30ec\u30c1\u30ca\u30fc\u30eb\u306e\u518d\u751f\u3092\u52a9\u3051\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u6697\u9806\u5fdc\u304c\u5927\u5e45\u306b\u9045\u308c\u3001\u8996\u899a\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b42\u7a2e\u985e\u306e\u75c5\u7684\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u306b\u306f\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3001\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u5909\u7570\u3001\u633f\u5165\u30fb\u6b20\u5931\u5909\u7570\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002Bothnia\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u4e3b\u306bp.Arg234Trp\u304a\u3088\u3073p.Met226Lys\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3068\u95a2\u9023\u3057\u3001\u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u6a5f\u80fd\u7684\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b20\u640d\u3092\u5f15\u304d\u8d77\u3053\u3059\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u5909\u7570\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u5e7c\u5c11\u671f\u306b\u591c\u76f2\uff08\u6697\u3044\u5834\u6240\u3067\u306e\u8996\u529b\u4f4e\u4e0b\uff09\u3068\u3057\u3066\u767a\u75c7\u3057\u3001\u6b21\u7b2c\u306b\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6697\u9806\u5fdc\u306e\u9045\u5ef6<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u306e\u8996\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u9ec4\u6591\u5909\u6027\u306b\u3088\u308b\u4e2d\u5fc3\u8996\u91ce\u306e\u55aa\u5931<\/li>\n\n\n\n<li>\u5468\u8fba\u90e8\u306e\u8108\u7d61\u7db2\u819c\u840e\u7e2e<\/li>\n\n\n\n<li>\u7db2\u819c\u767d\u70b9\u75c7\u306b\u7279\u5fb4\u7684\u306a\u9ec4\u767d\u8272\u306e\u7db2\u819c\u70b9\u72b6\u75c5\u5909<\/li>\n\n\n\n<li>\u8996\u91ce\u306e\u72ed\u7a84\u304c\u9032\u884c\u3057\u3001\u6210\u4eba\u671f\u306b\u306f\u6cd5\u7684\u5931\u660e\u306b\u81f3\u308b<\/li>\n<\/ul>\n\n\n\n<p>Bothnia\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u7b2c\u4e8c\u307e\u305f\u306f\u7b2c\u4e09\u306e\u5341\u5e74\uff0820\uff5e30\u4ee3\uff09\u3067\u9ec4\u6591\u840e\u7e2e\u3092\u793a\u3057\u3001\u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3055\u3089\u306b\u6025\u901f\u306b\u9032\u884c\u3057\u300120\u4ee3\u3067\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u81e8\u5e8a\u8a55\u4fa1\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u304a\u3088\u3073\u591a\u69d8\u306a\u753b\u50cf\u8a3a\u65ad\u6280\u8853\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u5e95\u691c\u67fb<\/strong>\uff1a\u7db2\u819c\u767d\u70b9\u75c7\u306b\u7279\u5fb4\u7684\u306a\u9ec4\u767d\u8272\u306e\u7db2\u819c\u70b9\u72b6\u75c5\u5909\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09<\/strong>\uff1a\u7db2\u819c\u306e\u83f2\u8584\u5316\u3001\u9ec4\u6591\u840e\u7e2e\u3001\u30a8\u30ea\u30d7\u30bd\u30a4\u30c9\u30be\u30fc\u30f3\u306e\u7834\u58ca\u3092\u691c\u51fa<\/li>\n\n\n\n<li><strong>\u5168\u8996\u91ce\u96fb\u6c17\u7db2\u819c\u56f3\uff08ffERG\uff09<\/strong>\uff1a\u6746\u4f53\u304a\u3088\u3073\u9310\u4f53\u5fdc\u7b54\u306e\u8457\u3057\u3044\u4f4e\u4e0b\u3092\u78ba\u8a8d\u3057\u3001\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u8a3a\u65ad<\/li>\n\n\n\n<li><strong>\u6697\u9806\u5fdc\u8a66\u9a13<\/strong>\uff1a\u9069\u5fdc\u6642\u9593\u306e\u5927\u5e45\u306a\u5ef6\u9577\u3092\u78ba\u8a8d\u3057\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u793a\u5506<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aRLBP1\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<p>\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u9069\u5fdc\u57fa\u6e96\u3068\u3057\u3066\u3001\u30a8\u30ea\u30d7\u30bd\u30a4\u30c9\u30be\u30fc\u30f3\u306e\u5e45\u304c1200\u03bcm\u4ee5\u4e0a\u3001\u4e2d\u5fc3\u9ec4\u6591\u539a\u304c130\uff5e150\u03bcm\u4ee5\u4e0a\u3067\u3001\u30a8\u30ea\u30d7\u30bd\u30a4\u30c9\u304a\u3088\u3073\u30a4\u30f3\u30bf\u30fc\u30c7\u30a3\u30b8\u30c6\u30fc\u30b7\u30e7\u30f3\u30be\u30fc\u30f3\u304c\u691c\u51fa\u53ef\u80fd\u3067\u3042\u308b\u3053\u3068\u304c\u63d0\u6848\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306b\u5bfe\u3059\u308b\u78ba\u7acb\u3055\u308c\u305f\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65b0\u3057\u3044\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u958b\u767a\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u73fe\u5728\u3001AAV\u5a92\u4ecbRLBP1\u907a\u4f1d\u5b50\u7f6e\u63db\u7642\u6cd5\uff08NCT03374657\uff09\u304c\u81e8\u5e8a\u8a66\u9a13\u4e2d\u3067\u3042\u308a\u3001\u524d\u81e8\u5e8a\u30e2\u30c7\u30eb\u3067\u306f\u6a5f\u80fd\u56de\u5fa9\u306e\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u7ba1\u7406\u65b9\u6cd5\u3068\u3057\u3066\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u88dc\u52a9<\/strong>\uff1a\u62e1\u5927\u93e1\u3084\u9069\u5fdc\u6280\u8853\u3092\u4f7f\u7528\u3057\u3001\u6b8b\u5b58\u8996\u529b\u3092\u6d3b\u7528<\/li>\n\n\n\n<li><strong>\u79fb\u52d5\u8a13\u7df4<\/strong>\uff1a\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3\u8005\u306e\u305f\u3081\u306e\u30aa\u30ea\u30a8\u30f3\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u79fb\u52d5\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u4fdd\u8b77\u773c\u93e1\u306e\u4f7f\u7528<\/strong>\uff1a\u5149\u6bd2\u6027\u306b\u3088\u308b\u640d\u50b7\u3092\u8efd\u6e1b\u3059\u308b\u305f\u3081\u306e\u30b5\u30f3\u30b0\u30e9\u30b9\u7740\u7528<\/li>\n\n\n\n<li><strong>\u5b9f\u9a13\u7684\u6cbb\u7642<\/strong>\uff1a\u5e79\u7d30\u80de\u7642\u6cd5\u3084\u8996\u899a\u30b5\u30a4\u30af\u30eb\u3092\u6a19\u7684\u3068\u3057\u305f\u85ac\u7269\u7642\u6cd5\u306a\u3069\u306e\u7814\u7a76\u304c\u9032\u884c\u4e2d<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u4e88\u5f8c\u306f\u4f9d\u7136\u3068\u3057\u3066\u53b3\u3057\u304f\u3001\u8996\u529b\u306e\u9032\u884c\u7684\u306a\u55aa\u5931\u306b\u3088\u308a\u3001\u6210\u4eba\u671f\u306b\u306f\u6cd5\u7684\u5931\u660e\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u306f\u4e2d\u5e74\u671f\u307e\u3067\u308f\u305a\u304b\u306a\u8996\u529b\u3092\u4fdd\u6301\u3059\u308b\u3082\u306e\u306e\u3001\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u306f\u91cd\u5ea6\u306e\u6a5f\u80fd\u969c\u5bb3\u304c\u767a\u751f\u3057\u307e\u3059\u3002\u75be\u60a3\u306e\u9032\u884c\u901f\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8996\u91ce\u55aa\u5931\u3084\u6697\u9806\u5fdc\u969c\u5bb3\u306f\u4e00\u8cab\u3057\u3066\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u82e5\u5e74\u5c64\u3067\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u4eca\u5f8c\u306e\u9032\u884c\u3092\u6291\u5236\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u65e9\u671f\u4ecb\u5165\u304c\u91cd\u8981\u3067\u3059\u3002\u5c06\u6765\u7684\u306a\u81e8\u5e8a\u8a66\u9a13\u306b\u304a\u3044\u3066\u3001\u8996\u899a\u6a5f\u80fd\u306e\u7dad\u6301\u3084\u6539\u5584\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.xops.2021.100052\">Bocquet, B., El Alami Trebki, H., Roux, A. F., Labesse, G., Brabet, P., Arndt, C., Zanlonghi, X., Defoort-Dhellemmes, S., Hamroun, D., Boulicot-S\u00e9guin, C., Lequeux, L., Picot, M. C., Huguet, H., Audo, I., Dhaenens, C. M., Kalatzis, V., &amp; Meunier, I. (2021). Retinitis punctata albescens and rlbp1-allied phenotypes. <em>Ophthalmology Science<\/em>, <em>1<\/em>(3), 100052. https:\/\/doi.org\/10.1016\/j.xops.2021.100052<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1167\/iovs.64.13.42\">Burstedt, M., Whelan, J. H., Green, J. S., Holopigian, K., Spera, C., Greco, E., Deslandes, J.-Y., Wald, M., Grosskreutz, C., Ni, X., Normand, G., Maker, M., Charil, A., Rosol, M., He, Y., &amp; Stasi, K. (2023). Retinal dystrophy associated with <em>rlbp1<\/em> retinitis pigmentosa: A five-year prospective natural history study. <em>Investigative Opthalmology &amp; Visual Science<\/em>, <em>64<\/em>(13), 42. https:\/\/doi.org\/10.1167\/iovs.64.13.42<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ajo.2024.06.016\">Bianco, L., Antropoli, A., Benadji, A., Condroyer, C., Antonio, A., Navarro, J., Sahel, J.-A., Zeitz, C., &amp; Audo, I. (2024). Rdh5 and rlbp1-associated inherited retinal diseases: Refining the spectrum of stationary and progressive phenotypes. <em>American Journal of Ophthalmology<\/em>, <em>267<\/em>, 160\u2013171. https:\/\/doi.org\/10.1016\/j.ajo.2024.06.016<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2800132\">Kalatzis, V., Damodar, K., Dubois, G., Guillou, L., Mamaeva, D., Erkilic, N., &#8230; &amp; Brabet, P. (2024). RLBP1 gene replacement studies identify two CRALBP isoforms that are differentially expressed in murine retina and human iPSC-derived retinal models. <em>Investigative Ophthalmology &amp; Visual Science<\/em>, <em>65<\/em>(7), 6086-6086.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>RLBP1, \u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, Bothnia\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u7db2\u819c\u767d\u70b9\u75c7, \u30cb\u30e5\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30f3\u30c9\u6746\u4f53\u9310\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u591c\u76f2, \u907a\u4f1d\u6027\u8996\u899a\u969c\u5bb3, \u907a\u4f1d\u5b50\u5909\u7570, CRALBP, \u8996\u899a\u30b5\u30a4\u30af\u30eb, \u6697\u9806\u5fdc\u969c\u5bb3, \u907a\u4f1d\u5b50\u6cbb\u7642<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":28,"template":"page_gd.php","class_list":["post-33636","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\/33636","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33636\/revisions"}],"predecessor-version":[{"id":128055,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33636\/revisions\/128055"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33636"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}