{"id":59539,"date":"2023-08-14T11:57:03","date_gmt":"2023-08-14T02:57:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=59539"},"modified":"2025-03-12T16:41:16","modified_gmt":"2025-03-12T07:41:16","slug":"juvenile-retinoschisis","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/juvenile-retinoschisis\/","title":{"rendered":"\u82e5\u5e74\u6027\u7db2\u819c\u5265\u96e2\u75c7"},"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>X\u9023\u9396\u6027\u82e5\u5e74\u6027\u7db2\u819c\u5206\u88c2\u75c7\uff08XLRS\uff09\u306f\u3001\u7db2\u819c\u306e\u5206\u88c2\u3084\u8996\u529b\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u4e3b\u306b\u7537\u6027\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001RS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u9032\u5c55\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002XLRS\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u7814\u7a76\u3068\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u3092\u63a2\u308a\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>RS1\uff5cJuvenile Retinoschisis, X-Linked<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>X\u9023\u9396\u6027\u82e5\u5e74\u6027\u7db2\u819c\u5206\u88c2\u75c7\uff08X-linked juvenile retinoschisis, XLRS\uff09\u306f\u3001\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u7db2\u819c\u75be\u60a3\u3067\u3001\u4e3b\u306b\u7537\u6027\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u3002XLRS\u306f\u3001\u7db2\u819c\u306e\u5916\u7db2\u72b6\u5c64\u3068\u5916\u9846\u7c92\u5c64\u306e\u9593\u306b\u56a2\u80de\u72b6\u306e\u7a7a\u9593\u304c\u5f62\u6210\u3055\u308c\u308b\u3053\u3068\u3092\u7279\u5fb4\u3068\u3057\u3001\u4e2d\u5fc3\u8996\u529b\u306e\u4f4e\u4e0b\u3084\u7db2\u819c\u5c64\u306e\u5206\u96e2\u304c\u751f\u3058\u308b\u3002\u75be\u60a3\u306e\u539f\u56e0\u306f<strong>RS1<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3042\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308b<strong>\u30ec\u30c1\u30ce\u30b9\u30ad\u30b7\u30f3<\/strong>\uff08retinoschisin\uff09\u306f\u3001\u7db2\u819c\u306e\u7d30\u80de\u9593\u63a5\u7740\u3092\u7dad\u6301\u3057\u3001\u8996\u7d30\u80de\u3068\u53cc\u6975\u7d30\u80de\u306e\u6a5f\u80fd\u3092\u652f\u3048\u308b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>XLRS\u60a3\u8005\u3067\u306f\u3001\u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb\uff08ERG\uff09\u306b\u304a\u3044\u3066b\u6ce2\u306e\u9855\u8457\u306a\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u3001\u7db2\u819c\u5206\u88c2\u304c\u9032\u884c\u3059\u308b\u3053\u3068\u3067\u8996\u899a\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u785d\u5b50\u4f53\u51fa\u8840\u3084\u7db2\u819c\u5265\u96e2\u3068\u3044\u3063\u305f\u5408\u4f75\u75c7\u304c\u751f\u3058\u3001\u91cd\u7be4\u306a\u8996\u529b\u969c\u5bb3\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u73fe\u5728\u3001XLRS\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u75be\u60a3\u306e\u9032\u884c\u3092\u6291\u5236\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>XLRS\u306e\u6709\u75c5\u7387\u306f<strong>1:5,000\uff5e1:25,000<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001X\u9023\u9396\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f\u7537\u6027\u3067\u3042\u308b\u3002\u5973\u6027\u306f\u901a\u5e38\u3001\u7121\u75c7\u5019\u6027\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308b\u304c\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306e\u5f71\u97ff\u306b\u3088\u308a\u8efd\u5ea6\u306e\u7db2\u819c\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308b\u3002XLRS\u306e\u81e8\u5e8a\u8868\u73fe\u578b\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u540c\u4e00\u5bb6\u7cfb\u5185\u3067\u3082\u75be\u60a3\u306e\u9032\u884c\u901f\u5ea6\u3084\u91cd\u75c7\u5ea6\u306b\u3070\u3089\u3064\u304d\u304c\u3042\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>XLRS\u306e\u539f\u56e0\u3068\u306a\u308b<strong>RS1\u907a\u4f1d\u5b50\uff08Xp22.1\uff09<\/strong><strong>\u306f\u3001\u7db2\u819c\u3068\u677e\u679c\u4f53\u3067\u7279\u7570\u7684\u306b\u767a\u73fe\u3057\u3001224\u30a2\u30df\u30ce\u9178\u304b\u3089\u306a\u308b\u5206\u6ccc\u578b\u30bf\u30f3\u30d1\u30af\u8cea<\/strong><strong>\u30ec\u30c1\u30ce\u30b9\u30ad\u30b7\u30f3<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8996\u7d30\u80de\u3068\u53cc\u6975\u7d30\u80de\u306e\u7d30\u80de\u9593\u7d50\u5408\u3092\u7dad\u6301\u3057\u3001\u7db2\u819c\u306e\u7d44\u7e54\u69cb\u9020\u3092\u5b89\u5b9a\u3055\u305b\u308b\u5f79\u5272\u3092\u6301\u3064\u3002<\/p>\n\n\n\n<p>RS1\u907a\u4f1d\u5b50\u306b\u306f200\u7a2e\u985e\u4ee5\u4e0a\u306e\u75be\u60a3\u95a2\u9023\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u591a\u304f\u304c<strong>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570<\/strong>\u3067\u3042\u308b\u3002\u7279\u306b\u30014\uff5e6\u756a\u76ee\u306e\u30a8\u30af\u30bd\u30f3\u306b\u96c6\u4e2d\u3057\u3066\u3044\u308b<strong>discoidin\u30c9\u30e1\u30a4\u30f3<\/strong>\u306f\u3001\u7d30\u80de\u9593\u63a5\u7740\u306b\u95a2\u4e0e\u3057\u3001\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8aa4\u3063\u305f\u6298\u308a\u305f\u305f\u307f\u3084\u5206\u6ccc\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u30ec\u30c1\u30ce\u30b9\u30ad\u30b7\u30f3\u304c\u9069\u5207\u306b\u6a5f\u80fd\u305b\u305a\u3001\u7db2\u819c\u306e\u7d30\u80de\u5c64\u306e\u5206\u88c2\u3084\u8996\u7d30\u80de\u306e\u5909\u6027\u304c\u9032\u884c\u3059\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-greentreelabs-post-snippets-block\">RS1\u907a\u4f1d\u5b50\u3067\u3042\u308c\u3070\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance FM+\u30d7\u30e9\u30f3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance GM+\u30d7\u30e9\u30f3<\/a>\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u304a\u308a\u307e\u3059\u3002<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>XLRS\u306e\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306b\u306f\u4ee5\u4e0b\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u529b\u4f4e\u4e0b<\/strong>\uff1a\u901a\u5e38\u3001\u5b66\u7ae5\u671f\u306b\u767a\u898b\u3055\u308c\u308b\u304c\u3001\u4e73\u5150\u671f\u304b\u3089\u767a\u75c7\u3059\u308b\u91cd\u75c7\u4f8b\u3082\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4e21\u773c\u6027\u306e\u7db2\u819c\u5206\u88c2<\/strong>\uff1a\u9ec4\u6591\u90e8\u306e\u653e\u5c04\u72b6\u88c2\u9699\uff08spoke-wheel pattern\uff09\u304c\u7279\u5fb4\u7684\u3002<\/li>\n\n\n\n<li><strong>\u9060\u8996<\/strong>\uff1a\u5927\u534a\u306e\u60a3\u8005\u304c\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u9060\u8996\u3092\u5448\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u96fb\u6c17\u751f\u7406\u5b66\u7684\u7570\u5e38<\/strong>\uff1a\u30d5\u30eb\u30d5\u30a3\u30fc\u30eb\u30c9ERG\u306b\u304a\u3044\u3066\u8ca0\u306e\u6ce2\u5f62\uff08electronegative ERG\uff09\u304c\u78ba\u8a8d\u3055\u308c\u3001b\u6ce2\u306e\u6e1b\u8870\u304c\u898b\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7<\/strong>\uff1a\u785d\u5b50\u4f53\u51fa\u8840\u3001\u7db2\u819c\u5265\u96e2\u3001\u9ec4\u6591\u5186\u5b54\u304c5\uff5e20%\u306e\u60a3\u8005\u306b\u767a\u751f\u3059\u308b\u3002<\/li>\n<\/ul>\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\u306b\u306f\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\" start=\"1\">\n<li><strong>\u773c\u5e95\u691c\u67fb<\/strong>\uff1a\u9ec4\u6591\u90e8\u306b\u7279\u5fb4\u7684\u306a\u653e\u5c04\u72b6\u88c2\u9699\u304c\u898b\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09<\/strong>\uff1a\u7db2\u819c\u5206\u88c2\u306e\u5e83\u304c\u308a\u3092\u8a73\u7d30\u306b\u89b3\u5bdf\u3067\u304d\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09<\/strong>\uff1a\u8ca0\u306eERG\u6ce2\u5f62\uff08a\u6ce2\u306b\u5bfe\u3057\u3066b\u6ce2\u304c\u8457\u3057\u304f\u6e1b\u5c11\uff09\u3092\u793a\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aRS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3002<\/li>\n<\/ol>\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\u5728\u3001XLRS\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u304c\u3001\u4ee5\u4e0b\u306e\u6cbb\u7642\u6cd5\u304c\u7814\u7a76\u30fb\u5b9f\u65bd\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\" start=\"1\">\n<li><strong>\u70ad\u9178\u8131\u6c34\u9175\u7d20\u963b\u5bb3\u5264\uff08CAI\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30c9\u30eb\u30be\u30e9\u30df\u30c9\u70b9\u773c\u85ac<\/strong>\u304c\u7db2\u819c\u56a2\u80de\u306e\u7e2e\u5c0f\u306b\u5bc4\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u8996\u529b\u6539\u5584\u306b\u306f\u9650\u754c\u304c\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30a2\u30c7\u30ce\u968f\u4f34\u30a6\u30a4\u30eb\u30b9\uff08AAV\uff09\u30d9\u30af\u30bf\u30fc<\/strong>\u3092\u7528\u3044\u305fRS1\u907a\u4f1d\u5b50\u5c0e\u5165\u304c\u524d\u81e8\u5e8a\u8a66\u9a13\u3067\u6709\u671b\u306a\u7d50\u679c\u3092\u793a\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u30d2\u30c8\u81e8\u5e8a\u8a66\u9a13\u3067\u306f\u4e00\u90e8\u306e\u60a3\u8005\u3067\u6cbb\u7642\u52b9\u679c\u304c\u9650\u5b9a\u7684\u3067\u3042\u308a\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u785d\u5b50\u4f53\u51fa\u8840\u3084\u7db2\u819c\u5265\u96e2\u3092\u4f34\u3046\u5834\u5408\u3001<strong>\u785d\u5b50\u4f53\u624b\u8853<\/strong>\u304c\u691c\u8a0e\u3055\u308c\u308b\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u624b\u8853\u5f8c\u306e\u8996\u529b\u4e88\u5f8c\u306f\u4e0d\u78ba\u5b9f\u3067\u3042\u308a\u3001\u614e\u91cd\u306a\u9069\u5fdc\u5224\u65ad\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>XLRS\u306e\u75c5\u614b\u9032\u884c\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308b\u304c\u3001\u901a\u5e38\u306f<strong>\u3086\u3063\u304f\u308a\u9032\u884c<\/strong>\u3057\u3001\u8996\u529b\u306e\u4f4e\u4e0b\u306f\u6570\u5341\u5e74\u304b\u3051\u3066\u9032\u3080\u3002\u5927\u534a\u306e\u60a3\u8005\u3067\u306f\u3001\u6210\u4eba\u671f\u306b\u5165\u308b\u3068\u9ec4\u6591\u90e8\u306e\u69cb\u9020\u5909\u5316\u304c\u9032\u307f\u3001\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u306e\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u75c7\u4f8b<\/strong>\uff1a\u8996\u529b\u306f0.3\uff5e0.5\uff0820\/60\uff5e20\/40\uff09\u7a0b\u5ea6\u3067\u7dad\u6301\u3055\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u4f8b<\/strong>\uff1a30\u4ee3\u4ee5\u964d\u306b\u9032\u884c\u6027\u306e\u9ec4\u6591\u840e\u7e2e\u304c\u9032\u307f\u3001<strong>0.1\uff0820\/200\uff09\u4ee5\u4e0b<\/strong>\u306b\u4f4e\u4e0b\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7\u306b\u3088\u308b\u60aa\u5316<\/strong>\uff1a\u7db2\u819c\u5265\u96e2\u3084\u785d\u5b50\u4f53\u51fa\u8840\u304c\u767a\u751f\u3057\u305f\u5834\u5408\u3001\u6025\u6fc0\u306a\u8996\u529b\u4f4e\u4e0b\u3092\u4f34\u3044\u3001\u624b\u8853\u304c\u5fc5\u8981\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p>XLRS\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308b\u304c\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u5e79\u7d30\u80de\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3080\u3053\u3068\u3067\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u78ba\u7acb\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u308b\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u3063\u3066\u3001\u60a3\u8005\u306e\u8996\u6a5f\u80fd\u3092\u6700\u5927\u9650\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308b\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.preteyeres.2011.12.002\">Molday, R. S., Kellner, U., &amp; Weber, B. H. F. (2012). X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms. <em>Progress in Retinal and Eye Research<\/em>, <em>31<\/em>(3), 195\u2013212. https:\/\/doi.org\/10.1016\/j.preteyeres.2011.12.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms25158203\">Han, J. W., Chang, H. S., Park, S. C., Yang, J. Y., Kim, Y. J., Kim, J. H., Park, H. S., Jeong, H., Lee, J., Yoon, C. K., Yu, H. G., Woo, S. J., Lyu, J., &amp; Park, T. K. (2024). Early Developmental Characteristics and Features of a Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis. <em>International journal of molecular sciences<\/em>, <em>25<\/em>(15), 8203. https:\/\/doi.org\/10.3390\/ijms25158203<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-024-84161-1\">Suvannaboon, R., Tuekprakhon, A., Pawestri, A.R. <em>et al.<\/em> The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis. <em>Sci Rep<\/em> <strong>15<\/strong>, 541 (2025). https:\/\/doi.org\/10.1038\/s41598-024-84161-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms25021267\">Van Der Veen, I., Heredero Berzal, A., Koster, C., Ten Asbroek, A. L. M. A., Bergen, A. A., &amp; Boon, C. J. F. (2024). The road towards gene therapy for x-linked juvenile retinoschisis: A systematic review of preclinical gene therapy in cell-based and rodent models of xlrs. <em>International Journal of Molecular Sciences<\/em>, <em>25<\/em>(2), 1267. https:\/\/doi.org\/10.3390\/ijms25021267<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.exer.2023.109591\">Ambrosio, L., Akula, J. D., Harman, J. C., Arellano, I. A., &amp; Fulton, A. B. (2023). Do the retinal abnormalities in X-linked juvenile retinoschisis include impaired phototransduction? <em>Experimental Eye Research<\/em>, <em>234<\/em>, 109591. https:\/\/doi.org\/10.1016\/j.exer.2023.109591<\/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>X\u9023\u9396\u6027\u82e5\u5e74\u6027\u7db2\u819c\u5206\u88c2\u75c7, XLRS, RS1\u907a\u4f1d\u5b50, \u30ec\u30c1\u30ce\u30b9\u30ad\u30b7\u30f3, \u907a\u4f1d\u6027\u7db2\u819c\u75be\u60a3, \u7db2\u819c\u5206\u88c2, \u907a\u4f1d\u5b50\u6cbb\u7642, \u773c\u5e95\u691c\u67fb, OCT, \u7db2\u819c\u96fb\u56f3, \u785d\u5b50\u4f53\u51fa\u8840, \u7db2\u819c\u5265\u96e2, \u8996\u529b\u4f4e\u4e0b, \u9ec4\u6591\u7570\u5e38<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-59539","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\/59539","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59539\/revisions"}],"predecessor-version":[{"id":94877,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59539\/revisions\/94877"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=59539"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}