{"id":60286,"date":"2023-08-25T09:56:26","date_gmt":"2023-08-25T00:56:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60286"},"modified":"2026-05-08T13:25:17","modified_gmt":"2026-05-08T04:25:17","slug":"mutation-associated-retinal-degeneration","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mutation-associated-retinal-degeneration\/","title":{"rendered":"\u5909\u7570\u95a2\u9023\u7db2\u819c\u5909\u6027\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>\u5f37\u8abf\u578bS\u9310\u4f53\u75c7\u5019\u7fa4\uff08Enhanced S-Cone Syndrome, ESCS\uff09\u306f\u3001NR2E3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u7db2\u819c\u75be\u60a3\u3067\u3059\u3002\u687f\u4f53\u8996\u7d30\u80de\u306e\u767a\u9054\u7570\u5e38\u306b\u3088\u308a\u591c\u76f2\u3084\u9752\u8272\u5149\u306b\u5bfe\u3059\u308b\u904e\u654f\u304c\u751f\u3058\u3001\u8996\u529b\u4f4e\u4e0b\u3084\u7db2\u819c\u5909\u6027\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001ESCS\u306e\u539f\u56e0\u3084\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u53ef\u80fd\u6027\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>NR2E3\uff5cEnhanced S-Cone Syndrome<\/p>\n\n\n\n<p><sup>ESCS; Goldmann-Favre Syndrome; GFS; Retinoschisis with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Nyctalopia<\/sup><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/10781\/index\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/10781\/index\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5f37\u8abf\u578bS\u9310\u4f53\u75c7\u5019\u7fa4\uff08Enhanced S-Cone Syndrome, ESCS\uff09\u306f\u3001\u6975\u3081\u3066\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u306e\u7db2\u819c\u75be\u60a3\u3067\u3042\u308a\u3001<em>NR2E3<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u6838\u5185\u30db\u30eb\u30e2\u30f3\u53d7\u5bb9\u4f53\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7db2\u819c\u306e\u687f\u4f53\uff08\u30ed\u30c3\u30c9\uff09\u8996\u7d30\u80de\u306e\u767a\u9054\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002ESCS\u3067\u306f\u3001\u8996\u7d30\u80de\u524d\u99c6\u7d30\u80de\u306e\u6b63\u5e38\u306a\u5206\u5316\u304c\u59a8\u3052\u3089\u308c\u3001\u901a\u5e38\u3088\u308a\u3082\u77ed\u6ce2\u9577\u5149\u306b\u611f\u53d7\u6027\u3092\u6301\u3064S\u9310\u4f53\uff08\u9752\u9310\u4f53\uff09\u304c\u904e\u5270\u306b\u5f62\u6210\u3055\u308c\u308b\u4e00\u65b9\u3001\u687f\u4f53\u306e\u6570\u304c\u5927\u5e45\u306b\u6e1b\u5c11\u3001\u307e\u305f\u306f\u5b8c\u5168\u306b\u6b20\u640d\u3057\u307e\u3059\u3002\u3053\u306e\u7d50\u679c\u3001\u5e7c\u5c11\u671f\u304b\u3089\u591c\u76f2\uff08\u6697\u3044\u5834\u6240\u3067\u306e\u8996\u529b\u4f4e\u4e0b\uff09\u304c\u751f\u3058\u3001\u9752\u8272\u5149\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027\u304c\u7570\u5e38\u306b\u9ad8\u307e\u308a\u3001\u8d64\uff08L\u9310\u4f53\uff09\u3084\u7dd1\uff08M\u9310\u4f53\uff09\u306e\u8996\u529b\u306b\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>ESCS\u306e\u8a3a\u65ad\u306b\u306f\u3001\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u306b\u3088\u308b\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u306e\u78ba\u8a8d\u304c\u91cd\u8981\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u901a\u5e38\u306e\u687f\u4f53\u5fdc\u7b54\u304c\u6d88\u5931\u307e\u305f\u306f\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u3001S\u9310\u4f53\u306e\u5fdc\u7b54\u304c\u904e\u5270\u306b\u5f37\u8abf\u3055\u308c\u308b\u3068\u3044\u3046\u7279\u7570\u306a\u96fb\u6c17\u751f\u7406\u5b66\u7684\u6240\u898b\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>ESCS\u306f\u3001<em>NR2E3<\/em>\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u7fa4\u306e\u4e00\u90e8\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u540c\u3058\u907a\u4f1d\u7684\u80cc\u666f\u3092\u6301\u3064\u75be\u60a3\u3068\u3057\u3066\u3001\u30b4\u30fc\u30eb\u30c9\u30de\u30f3\u30fb\u30d5\u30a1\u30d6\u30ec\u75c7\u5019\u7fa4\uff08Goldmann-Favre Syndrome, GFS\uff09\u3084\u51dd\u96c6\u6027\u8272\u7d20\u6027\u7db2\u819c\u5909\u6027\u75c7\uff08Clumped Pigmentary Retinal Degeneration, CPRD\uff09\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002ESCS\u306f\u4e3b\u306b\u8996\u7d30\u80de\u6a5f\u80fd\u306e\u7570\u5e38\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u9032\u884c\u6027\u306e\u7db2\u819c\u5909\u6027\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>ESCS\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4e16\u754c\u4e2d\u306e\u8907\u6570\u306e\u96c6\u56e3\u3067\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u3042\u308b\u305f\u3081\u3001\u767a\u75c7\u306b\u306f\u4e21\u89aa\u304c<em>NR2E3<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u4fdd\u6301\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002<em>NR2E3<\/em>\u95a2\u9023\u75be\u60a3\u306f\u81e8\u5e8a\u7684\u306a\u591a\u69d8\u6027\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u6b63\u78ba\u306a\u75ab\u5b66\u7684\u8a55\u4fa1\u304c\u96e3\u3057\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u7d50\u679c\u306b\u3088\u308b\u3068\u3001<em>NR2E3<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u907a\u4f1d\u6027\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u4e00\u90e8\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u8840\u7e01\u5a5a\u304c\u591a\u3044\u96c6\u56e3\u3067\u306f\u6bd4\u8f03\u7684\u9ad8\u3044\u983b\u5ea6\u3067\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u304c\u5831\u544a\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>ESCS\u306f\u3001\u67d3\u8272\u4f5315q23\u306b\u4f4d\u7f6e\u3059\u308b<em>NR2E3<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7db2\u819c\u306e\u767a\u9054\u904e\u7a0b\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u687f\u4f53\u306e\u5206\u5316\u3092\u4fc3\u3057\u3064\u3064\u3001\u9310\u4f53\u7279\u7570\u7684\u306a\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u6291\u5236\u3059\u308b\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u7684\u5909\u7570\u304c<em>NR2E3<\/em>\u907a\u4f1d\u5b50\u306b\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u6b63\u5e38\u306a\u5206\u5316\u30d7\u30ed\u30bb\u30b9\u304c\u7834\u7dbb\u3057\u3001\u672c\u6765\u306f\u687f\u4f53\u306b\u306a\u308b\u306f\u305a\u306e\u524d\u99c6\u7d30\u80de\u304cS\u9310\u4f53\u3078\u3068\u5909\u5316\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u7db2\u819c\u5185\u306eS\u9310\u4f53\u306e\u5272\u5408\u304c\u7570\u5e38\u306b\u5897\u52a0\u3057\u3001\u687f\u4f53\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u305f\u3081\u3001\u591c\u76f2\u3084\u7570\u5e38\u306a\u8272\u899a\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>ESCS\u306e\u91cd\u75c7\u5ea6\u306f\u3001\u5909\u7570\u306e\u7a2e\u985e\u3084\u305d\u306e\u5f71\u97ff\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u7279\u5b9a\u306e\u5909\u7570\u306f\u7db2\u819c\u5909\u6027\u3092\u3088\u308a\u5f37\u304f\u5f15\u304d\u8d77\u3053\u3057\u3001GFS\u306e\u3088\u3046\u306a\u91cd\u75c7\u578b\u3078\u3068\u9032\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308a\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>ESCS\u306e\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u3068\u3057\u3066\u3001\u5e7c\u5c11\u671f\u304b\u3089\u591c\u76f2\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u687f\u4f53\u8996\u7d30\u80de\u306e\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u307e\u305f\u3001\u9752\u8272\u5149\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027\u304c\u7570\u5e38\u306b\u9ad8\u307e\u308b\u305f\u3081\u3001\u901a\u5e38\u306e\u5149\u74b0\u5883\u3067\u3082\u307e\u3076\u3057\u3055\u3092\u611f\u3058\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>L\u9310\u4f53\u3084M\u9310\u4f53\u306e\u6a5f\u80fd\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e00\u90e8\u306e\u60a3\u8005\u306f\u8272\u899a\u304c\u4fdd\u305f\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8272\u306e\u8b58\u5225\u304c\u8457\u3057\u304f\u56f0\u96e3\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8996\u529b\u306f\u6bd4\u8f03\u7684\u5b89\u5b9a\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u8996\u529b\u304c\u9032\u884c\u7684\u306b\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u5e95\u691c\u67fb\u3067\u306f\u3001\u7db2\u819c\u306e\u4e2d\u9593\u5468\u8fba\u90e8\u306b\u7279\u5fb4\u7684\u306a\u51dd\u96c6\u6027\u8272\u7d20\u6c88\u7740\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u306fESCS\u306e\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u9ec4\u6591\u90e8\uff08\u4e2d\u5fc3\u8996\u3092\u62c5\u3046\u7db2\u819c\u306e\u9818\u57df\uff09\u306b\u304a\u3044\u3066\u3001\u56a2\u80de\u9ec4\u6591\u6d6e\u816b\uff08Cystoid Macular Edema, CME\uff09\u3001\u7db2\u819c\u5206\u96e2\uff08Retinoschisis\uff09\u3001\u307e\u305f\u306f\u9ec4\u6591\u5186\u5b54\uff08Macular Hole\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u9060\u8996\uff08\u9ad8\u9060\u8996\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u4e00\u822c\u7684\u3067\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>ESCS\u306e\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u78ba\u8a8d\u3068\u3068\u3082\u306b\u3001\u7db2\u819c\u753b\u50cf\u8a3a\u65ad\u3084\u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u3067\u306f\u3001\u687f\u4f53\u5fdc\u7b54\u304c\u6d88\u5931\u307e\u305f\u306f\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u3001\u4e00\u65b9\u3067S\u9310\u4f53\u5fdc\u7b54\u304c\u7570\u5e38\u306b\u5897\u5f37\u3055\u308c\u3066\u3044\u308b\u3068\u3044\u3046\u72ec\u7279\u306e\u6240\u898b\u304c\u5f97\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u5e95\u691c\u67fb\u3067\u306f\u3001\u51dd\u96c6\u6027\u8272\u7d20\u6c88\u7740\u3084\u8840\u7ba1\u306e\u83f2\u8584\u5316\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09\u306b\u3088\u308b\u8a73\u7d30\u306a\u89b3\u5bdf\u3067\u306f\u3001\u7db2\u819c\u5206\u96e2\u3001\u9ec4\u6591\u6d6e\u816b\u3001\u8996\u7d30\u80de\u306e\u6d88\u5931\u306a\u3069\u306e\u69cb\u9020\u7684\u5909\u5316\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u5b9f\u65bd\u3057\u3001<em>NR2E3<\/em>\u306e\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\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\u5728\u3001ESCS\u306e\u6839\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001\u8996\u529b\u3092\u7dad\u6301\u3057\u3001\u5408\u4f75\u75c7\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306e\u5bfe\u7b56\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u6bb5\u968e\u3067\u306f\u3001<em>NR2E3<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u6a21\u7d22\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u30a2\u30c7\u30ce\u968f\u4f34\u30a6\u30a4\u30eb\u30b9\uff08AAV\uff09\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u5c0e\u5165\u3084\u3001CRISPR\/Cas9\u306b\u3088\u308b\u907a\u4f1d\u5b50\u7de8\u96c6\u6280\u8853\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u7db2\u819c\u5185\u306e\u6b8b\u5b58\u7d30\u80de\u3092\u5149\u306b\u5fdc\u7b54\u3067\u304d\u308b\u3088\u3046\u306b\u3059\u308b\u30aa\u30d7\u30c8\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\uff08\u5149\u907a\u4f1d\u5b66\uff09\u306e\u7814\u7a76\u3082\u9032\u884c\u4e2d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u6cbb\u7642\u3068\u3057\u3066\u306f\u3001\u56a2\u80de\u9ec4\u6591\u6d6e\u816b\u306e\u7ba1\u7406\u306b\u70ad\u9178\u8131\u6c34\u9175\u7d20\u963b\u5bb3\u85ac\uff08\u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\u306a\u3069\uff09\u304c\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u529b\u88dc\u52a9\u30c7\u30d0\u30a4\u30b9\u3084\u4f4e\u8996\u529b\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>ESCS\u306e\u7d4c\u904e\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u8996\u529b\u304c\u9577\u671f\u9593\u5b89\u5b9a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u9032\u884c\u6027\u306e\u7db2\u819c\u5909\u6027\u3092\u793a\u3059\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u306e\u7570\u5e38\u306f\u751f\u6daf\u6301\u7d9a\u3057\u307e\u3059\u304c\u3001\u8996\u529b\u306e\u4f4e\u4e0b\u901f\u5ea6\u3084\u81e8\u5e8a\u7684\u91cd\u75c7\u5ea6\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9577\u671f\u7684\u306a\u7814\u7a76\u306b\u3088\u308b\u3068\u3001\u591a\u304f\u306e\u60a3\u8005\u3067\u306f\u77ef\u6b63\u8996\u529b\u304c\u3042\u308b\u7a0b\u5ea6\u7dad\u6301\u3055\u308c\u307e\u3059\u304c\u3001\u9ec4\u6591\u306e\u75c5\u5909\u304c\u60aa\u5316\u3059\u308b\u3068\u8996\u529b\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u500b\u5225\u306e\u7d4c\u904e\u89b3\u5bdf\u3068\u9069\u5207\u306a\u7ba1\u7406\u304c\u91cd\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1167\/iovs.18-24518\">Garafalo, A. V., Calzetti, G., Cideciyan, A. V., Roman, A. J., Saxena, S., Sumaroka, A., Choi, W., Wright, A. F., &amp; Jacobson, S. G. (2018). Cone vision changes in the enhanced s-cone syndrome caused by <em>nr2e3<\/em> gene mutations. <em>Investigative Opthalmology &amp; Visual Science<\/em>, <em>59<\/em>(8), 3209. https:\/\/doi.org\/10.1167\/iovs.18-24518<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.oret.2020.07.008\">De Carvalho, E. R., Robson, A. G., Arno, G., Boon, C. J. F., Webster, A. A., &amp; Michaelides, M. (2021). Enhanced s-cone syndrome. <em>Ophthalmology Retina<\/em>, <em>5<\/em>(2), 195\u2013214. https:\/\/doi.org\/10.1016\/j.oret.2020.07.008<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-3-031-27681-1_28\">Wang, Y., Wong, J., Duncan, J.L., Roorda, A., Tuten, W.S. (2023). Enhanced S-cone Syndrome, a Mini-review. In: Ash, J.D., Pierce, E., Anderson, R.E., Bowes Rickman, C., Hollyfield, J.G., Grimm, C. (eds) Retinal Degenerative Diseases XIX. Advances in Experimental Medicine and Biology, vol 1415. Springer, Cham. https:\/\/doi.org\/10.1007\/978-3-031-27681-1_28<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes14071325\">Toms, M., Ward, N., &amp; Moosajee, M. (2023). Nuclear receptor subfamily 2 group e member 3 (Nr2e3): Role in retinal development and disease. <em>Genes<\/em>, <em>14<\/em>(7), 1325. https:\/\/doi.org\/10.3390\/genes14071325<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60286","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\/60286","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\/60286\/revisions"}],"predecessor-version":[{"id":128101,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60286\/revisions\/128101"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60286"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}