{"id":33633,"date":"2022-07-11T17:23:01","date_gmt":"2022-07-11T08:23:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33633"},"modified":"2026-03-05T11:45:48","modified_gmt":"2026-03-05T02:45:48","slug":"retinitis-pigmentosa-25-eys-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-25-eys-related\/","title":{"rendered":"\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-25"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08\u3082\u3046\u307e\u304f\u3057\u304d\u305d\u3078\u3093\u305b\u3044\u3057\u3087\u3046\u3001Retinitis Pigmentosa\uff1aRP\uff09\u3068\u306f\u3001\u907a\u4f1d\u7684\u306b\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7db2\u819c\u306e\u5909\u6027\u75be\u60a3\u306e\u7dcf\u79f0\u3067\u3042\u308a\u3001\u9032\u884c\u6027\u306b\u8996\u7d30\u80de\uff08photoreceptor\uff09\u304c\u6a5f\u80fd\u3092\u5931\u3063\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u591c\u76f2\uff08\u3084\u3082\u3046\u3001night blindness\uff09\u3084\u8996\u91ce\u72ed\u7a84\uff08\u3057\u3084\u304d\u3087\u3046\u3055\u304f\u3001visual field constriction\uff09\u3001\u6700\u7d42\u7684\u306b\u306f\u4e2d\u5fc3\u8996\u529b\u306e\u4f4e\u4e0b\u3092\u304d\u305f\u3059\u75c5\u6c17\u3067\u3059\u3002\u7279\u306b\u521d\u671f\u306b\u306f\u687f\u4f53\uff08\u304b\u3093\u305f\u3044\u3001rod photoreceptors\uff09\u304c\u969c\u5bb3\u3055\u308c\u3001\u305d\u306e\u5f8c\u306b\u9310\u4f53\uff08\u3059\u3044\u305f\u3044\u3001cone photoreceptors\uff09\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u300c\u687f\u4f53-\u9310\u4f53\u5909\u6027\uff08rod-cone dystrophy\uff09\u300d\u3068\u3057\u3066\u9032\u884c\u3057\u307e\u3059\u3002\u773c\u5e95\u691c\u67fb\u3067\u306f\u3001\u8996\u795e\u7d4c\u4e73\u982d\u306e\u874b\u69d8\u84bc\u767d\uff08optic disc pallor\uff09\u3001\u7db2\u819c\u8840\u7ba1\u306e\u72ed\u5c0f\u5316\uff08attenuated retinal vessels\uff09\u3001\u8840\u7ba1\u5468\u56f2\u306e\u8272\u7d20\u6c88\u7740\uff08pigment clumping\uff09\u306a\u3069\u304c\u7279\u5fb4\u7684\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u8272\u7d20\u6c88\u7740\u306f\u201c\u9aa8\u5c0f\u4f53\uff08bone spicule\uff09\u201d\u3068\u547c\u3070\u308c\u308b\u72ec\u7279\u306e\u5f62\u72b6\u3092\u3068\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u75c5\u521d\u671f\u306b\u306f\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>RP\u3068\u3044\u3046\u8a3a\u65ad\u540d\u306f140\u5e74\u4ee5\u4e0a\u524d\u304b\u3089\u4f7f\u7528\u3055\u308c\u3066\u304a\u308a\u3001\u304b\u3064\u3066\u306f\u3055\u307e\u3056\u307e\u306a\u7db2\u819c\u75be\u60a3\u3092\u542b\u3080\u5e83\u7fa9\u306e\u5206\u985e\u540d\u3067\u3057\u305f\u304c\u3001\u73fe\u5728\u3067\u306f\u907a\u4f1d\u5b50\u5909\u7570\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u5171\u901a\u6027\u306b\u57fa\u3065\u304d\u3001\u3088\u308a\u7cbe\u5bc6\u306b\u5206\u985e\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3082\u306e\u306e\u3001\u8fd1\u5e74\u3067\u306f\u907a\u4f1d\u5b50\u6cbb\u7642\u3001\u5e79\u7d30\u80de\u79fb\u690d\u3001\u5149\u907a\u4f1d\u5b66\uff08optogenetics\uff09\u306a\u3069\u3001\u8996\u6a5f\u80fd\u306e\u56de\u5fa9\u3092\u76ee\u6307\u3059\u9769\u65b0\u7684\u306a\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>RP\u306e\u4e16\u754c\u5168\u4f53\u3067\u306e\u6709\u75c5\u7387\u306f\u304a\u304a\u3088\u305d3,500\u4eba\u304b\u30894,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u904e\u5c0f\u8a55\u4fa1\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u30a4\u30b9\u30e9\u30a8\u30eb\u30fb\u30a8\u30eb\u30b5\u30ec\u30e0\u5730\u57df\u3067\u306f\u975e\u75c7\u5019\u6027RP\u306e\u6709\u75c5\u7387\u304c\u7d042,086\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u897f\u6d0b\u306e\u4e00\u822c\u7684\u306a\u5831\u544a\u3088\u308a\u3082\u9ad8\u983b\u5ea6\u3067\u3059\u3002\u4e2d\u56fd\u5317\u90e8\u306e\u9ad8\u9f62\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f\u8abf\u67fb\u3067\u306f\u30011,000\u4eba\u306b1\u4eba\u304cRP\u306b\u5178\u578b\u7684\u306a\u6240\u898b\u3092\u6709\u3057\u3066\u3044\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>RP\u306f\u7537\u5973\u3068\u3082\u306b\u767a\u75c7\u3057\u3001\u5b64\u767a\u4f8b\uff08sporadic cases\uff09\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u5bb6\u65cf\u6027\uff08familial\uff09\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002\u7279\u306bX\u9023\u9396\u578b\uff08X-linked RP\uff09\u306f\u91cd\u75c7\u5ea6\u304c\u9ad8\u304f\u3001\u767a\u75c7\u5e74\u9f62\u3082\u82e5\u3044\u305f\u3081\u3001\u7537\u6027\u3067\u306e\u65e9\u671f\u8a3a\u65ad\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u4ed6\u306e\u8fd1\u8996\u6027\u75be\u60a3\u306a\u3069\u3068\u8aa4\u8a3a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u75ab\u5b66\u7684\u8abf\u67fb\u3067\u3082\u6b63\u78ba\u306a\u628a\u63e1\u304c\u96e3\u3057\u3044\u70b9\u304c\u8ab2\u984c\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>RP\u306f\u6975\u3081\u3066\u907a\u4f1d\u7684\u306b\u591a\u69d8\uff08genetically heterogeneous\uff09\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\uff1a\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\uff08autosomal dominant\uff1a\u7d0430\u301c40\uff05\uff09\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08autosomal recessive\uff1a\u7d0450\u301c60\uff05\uff09\u3001X\u9023\u9396\u907a\u4f1d\uff08X-linked\uff1a\u7d045\u301c15\uff05\uff09\u3002\u307e\u308c\u306b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u907a\u4f1d\uff08mitochondrial inheritance\uff09\u30842\u3064\u306e\u907a\u4f1d\u5b50\u306b\u307e\u305f\u304c\u308b\u4e8c\u907a\u4f1d\u5b50\u6027\u907a\u4f1d\uff08digenic inheritance\uff09\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>1990\u5e74\u306b\u521d\u3081\u3066RP\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u3066\u4ee5\u964d\u300179\u4ee5\u4e0a\u306eRP\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u3061\u591a\u304f\u306e\u5909\u7570\u306f\u8996\u899a\u4f1d\u9054\u7d4c\u8def\uff08phototransduction cascade\uff09\u3001\u8996\u899a\u30b5\u30a4\u30af\u30eb\uff08visual cycle\uff09\u3001\u5149\u53d7\u5bb9\u4f53\u306e\u69cb\u9020\u4fdd\u6301\u3001\u7d30\u80de\u5185\u8f38\u9001\uff08intracellular trafficking\uff09\u306a\u3069\u306b\u95a2\u308f\u308b\u305f\u3093\u3071\u304f\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001<em>RHO<\/em>\uff08\u30ed\u30c9\u30d7\u30b7\u30f3\uff09\u3001<em>PDE6A<\/em>\u3001<em>CNGB1<\/em>\u3001<em>RPGR<\/em>\u3001<em>CRB1<\/em>\u3001<em>RP2<\/em>\u3001<em>CHM<\/em>\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u304c\u9ad8\u983b\u5ea6\u3067\u5909\u7570\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308b\u75c7\u72b6\u304c\u73fe\u308c\u3001\u540c\u4e00\u5bb6\u7cfb\u5185\u3084\u5de6\u53f3\u306e\u773c\u3067\u3055\u3048\u3082\u75c5\u614b\u304c\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u907a\u4f1d\uff08somatic mosaicism\uff09\u3084\u4fee\u98fe\u907a\u4f1d\u5b50\uff08modifier genes\uff09\u306b\u3088\u308b\u5f71\u97ff\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5bb6\u7cfb\u56f3\u89e3\u6790\u3068\u4f75\u305b\u3066\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\uff08next-generation sequencing\uff09\u304c\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u306f\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>RP\u306e\u5178\u578b\u7684\u306a\u521d\u671f\u75c7\u72b6\u306f\u3001\u591c\u76f2\uff08nyctalopia\uff1a\u591c\u9593\u306e\u8996\u899a\u969c\u5bb3\uff09\u3067\u3059\u3002\u3053\u308c\u306f\u687f\u4f53\u304c\u5149\u306b\u53cd\u5fdc\u3059\u308b\u80fd\u529b\u3092\u5931\u3046\u305f\u3081\u3067\u3042\u308a\u3001\u6697\u6240\u3067\u306e\u8996\u8a8d\u304c\u56f0\u96e3\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u5468\u8fba\u8996\u91ce\u304c\u5f90\u3005\u306b\u72ed\u304f\u306a\u308a\u3001\u30c8\u30f3\u30cd\u30eb\u8996\u91ce\uff08tunnel vision\uff09\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u3092\u7d4c\u3066\u3001\u6700\u7d42\u7684\u306b\u306f\u4e2d\u5fc3\u8996\u529b\u3082\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u9032\u884c\u3059\u308b\u3068\u9310\u4f53\u306e\u969c\u5bb3\u306b\u3088\u3063\u3066\u8272\u899a\u7570\u5e38\u3084\u8aad\u66f8\u56f0\u96e3\u3082\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u51fa\u73fe\u6642\u671f\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e73\u5150\u671f\u306b\u767a\u75c7\u3059\u308bLeber\u5148\u5929\u76f2\uff08Leber congenital amaurosis\uff09\u304b\u3089\u3001\u6210\u4eba\u671f\u767a\u75c7\u306e\u5f62\u5f0f\u307e\u3067\u5e45\u5e83\u3044\u3067\u3059\u3002\u9006\u306b\u3001\u9310\u4f53\u512a\u4f4d\u306e\u5909\u6027\uff08cone-rod dystrophy\uff09\u3067\u306f\u3001\u521d\u671f\u306b\u8272\u899a\u4f4e\u4e0b\u3084\u4e2d\u5fc3\u8996\u529b\u969c\u5bb3\u304c\u8d77\u3053\u308a\u3001\u672b\u671f\u306b\u5468\u8fba\u8996\u91ce\u3082\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u75c7\u5019\u6027RP\uff08syndromic RP\uff09\u3067\u306f\u3001\u8996\u899a\u969c\u5bb3\u306b\u52a0\u3048\u3066\u96e3\u8074\u3001\u80a5\u6e80\u3001\u795e\u7d4c\u75c7\u72b6\u306a\u3069\u304c\u4f75\u5b58\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u75be\u60a3\u306b\u3001Refsum\u75c5\u3084Bardet-Biedl\u75c7\u5019\u7fa4\u306a\u3069\u304c\u3042\u308a\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>RP\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u4e2d\u5fc3\u7684\u306a\u691c\u67fb\u306f\u7db2\u819c\u96fb\u56f3\uff08electroretinography\uff1aERG\uff09\u3067\u3059\u3002ERG\u3067\u306f\u7db2\u819c\u306e\u5149\u523a\u6fc0\u306b\u5bfe\u3059\u308b\u96fb\u6c17\u7684\u5fdc\u7b54\u3092\u6e2c\u5b9a\u3057\u3001\u687f\u4f53\u6a5f\u80fd\u3068\u9310\u4f53\u6a5f\u80fd\u3092\u305d\u308c\u305e\u308c\u8a55\u4fa1\u3057\u307e\u3059\u3002\u6697\u9806\u5fdc\u6761\u4ef6\u3067\u306eERG\uff08scotopic ERG\uff09\u306f\u687f\u4f53\u306e\u53cd\u5fdc\u3092\u6e2c\u5b9a\u3057\u3001\u660e\u9806\u5fdc\u6761\u4ef6\u3067\u306eERG\uff08photopic ERG\uff09\u306f\u9310\u4f53\u306e\u53cd\u5fdc\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u75c5\u521d\u671f\u306b\u306fscotopic ERG\u304c\u6e1b\u5f31\u3057\u3001\u9032\u884c\u306b\u4f34\u3063\u3066photopic ERG\u3082\u6e1b\u5c11\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7d42\u672b\u671f\u306eRP\u3067\u306f\u3001ERG\u5fdc\u7b54\u304c\u5b8c\u5168\u306b\u6d88\u5931\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u201c\u30a8\u30ec\u30af\u30c8\u30ed\u30cd\u30ac\u30c6\u30a3\u30d6ERG\uff08electronegative ERG\uff09\u201d\u304c\u8a8d\u3081\u3089\u308c\u3001\u3053\u308c\u306f\u5149\u53d7\u5bb9\u4f53\u4ee5\u964d\u306e\u5185\u5c64\u7db2\u819c\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u793a\u5506\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u5e95\u691c\u67fb\u3067\u306f\u3001\u8840\u7ba1\u72ed\u5c0f\u5316\u3001\u8996\u795e\u7d4c\u4e73\u982d\u306e\u84bc\u767d\u3001\u9aa8\u5c0f\u4f53\u69d8\u8272\u7d20\u6c88\u7740\u306a\u3069\u304c\u78ba\u8a8d\u3055\u308c\u3001\u8a3a\u65ad\u306e\u4e00\u52a9\u3068\u306a\u308a\u307e\u3059\u3002OCT\uff08\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff09\u3084\u86cd\u5149\u773c\u5e95\u9020\u5f71\uff08fluorescein angiography\uff09\u306a\u3069\u306e\u753b\u50cf\u8a3a\u65ad\u306f\u88dc\u52a9\u7684\u3067\u3059\u304c\u3001\u7db2\u819c\u306e\u69cb\u9020\u5909\u5316\u306e\u628a\u63e1\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u3084\u5bb6\u65cf\u5185\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u306f\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\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\u6642\u70b9\u3067RP\u3092\u5b8c\u5168\u306b\u6cbb\u7642\u3059\u308b\u65b9\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u3063\u3066\u8907\u6570\u306e\u6cbb\u7642\u5019\u88dc\u304c\u6a21\u7d22\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08gene therapy\uff09\u306f\u3001\u75be\u60a3\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3092\u88dc\u5145\u30fb\u4fee\u5fa9\u3059\u308b\u65b9\u6cd5\u3067\u3042\u308a\u3001\u7279\u306b<em>MERTK<\/em>\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u306b\u5bfe\u3057\u3066\u30a2\u30c7\u30ce\u968f\u4f34\u30a6\u30a4\u30eb\u30b9\uff08adeno-associated virus\uff1aAAV\uff09\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u5c0e\u5165\u304c\u884c\u308f\u308c\u3001\u77ed\u671f\u9593\u306e\u8996\u529b\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u30b2\u30ce\u30e0\u7de8\u96c6\u6280\u8853\uff08genome editing\uff09\u3067\u3042\u308bCRISPR\/Cas9\u3092\u7528\u3044\u3066\u3001<em>RHO<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u4fee\u5fa9\u3057\u305f\u30e9\u30c3\u30c8\u30e2\u30c7\u30eb\u3067\u306f\u3001\u7db2\u819c\u69cb\u9020\u3068\u6a5f\u80fd\u306e\u4fdd\u8b77\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u5e79\u7d30\u80de\u6cbb\u7642\uff08stem cell therapy\uff09\u3067\u306f\u3001\u9aa8\u9ac4\u7531\u6765\u5e79\u7d30\u80de\u3084iPS\u7d30\u80de\uff08\u4eba\u5de5\u591a\u80fd\u6027\u5e79\u7d30\u80de\u3001induced pluripotent stem cells\uff09\u304b\u3089\u8a98\u5c0e\u3057\u305f\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u7d30\u80de\uff08retinal pigment epithelium\uff1aRPE\uff09\u3092\u7db2\u819c\u5185\u306b\u79fb\u690d\u3059\u308b\u65b9\u6cd5\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u8996\u7d30\u80de\u306e\u4fdd\u8b77\u52b9\u679c\u304c\u4e00\u90e8\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6301\u7d9a\u6027\u3068\u5b89\u5168\u6027\u306b\u306f\u4eca\u5f8c\u306e\u691c\u8a3c\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u6804\u990a\u56e0\u5b50\uff08neurotrophic factors\uff09\u3092\u5229\u7528\u3057\u305f\u6cbb\u7642\u3082\u52d5\u7269\u5b9f\u9a13\u3067\u9032\u884c\u6291\u5236\u52b9\u679c\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001CNTF\uff08ciliary neurotrophic factor\uff09\u3001BDNF\uff08brain-derived neurotrophic factor\uff09\u3001GDNF\uff08glial-derived neurotrophic factor\uff09\u306a\u3069\u304c\u5019\u88dc\u7269\u8cea\u3068\u3057\u3066\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc\u3082\u91cd\u8981\u3067\u3042\u308a\u3001RP\u60a3\u8005\u3067\u306f\u9589\u585e\u9685\u89d2\u7dd1\u5185\u969c\uff08acute angle-closure glaucoma\uff09\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001RPGR\u3084RP2\u5909\u7570\u3092\u4f34\u3046\u75c7\u4f8b\u3067\u306f\u75c5\u7684\u8fd1\u8996\uff08high myopia\uff09\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u3092\u5358\u306a\u308b\u8fd1\u8996\u3068\u8aa4\u8a8d\u3057\u306a\u3044\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u56a2\u80de\u69d8\u9ec4\u6591\u6d6e\u816b\uff08cystoid macular edema\uff09\u306f\u30c9\u30be\u30e9\u30df\u30c9\uff08dorzolamide\uff09\u70b9\u773c\u306b\u3088\u308a\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5f8c\u56a2\u4e0b\u767d\u5185\u969c\uff08posterior subcapsular cataract\uff09\u3082\u9ad8\u9f62RP\u60a3\u8005\u306b\u591a\u304f\u898b\u3089\u308c\u3001\u624b\u8853\uff08\u8d85\u97f3\u6ce2\u6c34\u6676\u4f53\u4e73\u5316\u5438\u5f15\u8853\uff09\u3067\u306e\u5bfe\u5fdc\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672b\u671f\u306eRP\u3067\u306f\u3001\u5149\u53d7\u5bb9\u4f53\u304c\u307b\u307c\u5168\u6ec5\u3057\u3066\u3044\u308b\u3053\u3068\u304b\u3089\u3001\u8996\u899a\u88dc\u52a9\u30c7\u30d0\u30a4\u30b9\u3068\u3057\u3066\u4eba\u5de5\u7db2\u819c\uff08retinal prosthesis\uff09\u3084\u5149\u907a\u4f1d\u5b66\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u6709\u671b\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4f8b\u3068\u3057\u3066\u3001Argus II\u3068\u3044\u3046\u7db2\u819c\u4e0a\u819c\u578b\u306e\u4eba\u5de5\u7db2\u819c\u306f\u3001\u7269\u4f53\u8a8d\u8b58\u3084\u65b9\u5411\u611f\u899a\u306e\u88dc\u52a9\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002\u4eca\u5f8c\u306f\u3001\u8996\u795e\u7d4c\u306b\u6b8b\u5b58\u3059\u308b\u7d30\u80de\u3078\u5149\u611f\u53d7\u6027\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5c0e\u5165\u3059\u308b\u65b0\u6280\u8853\u3082\u958b\u767a\u4e2d\u3067\u3042\u308a\u3001\u73fe\u5728\u306e\u30c7\u30d0\u30a4\u30b9\u3092\u8d85\u3048\u308b\u8996\u899a\u88dc\u52a9\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u6d3b\u6307\u5c0e\u3068\u3057\u3066\u306f\u3001\u5f37\u3044\u5149\u3078\u306e\u9577\u6642\u9593\u66b4\u9732\u3092\u907f\u3051\u308b\u3001\u76ee\u306b\u512a\u3057\u3044\u8aad\u66f8\u7fd2\u6163\u3092\u5fc3\u304c\u3051\u308b\u3001\u6804\u990a\u30d0\u30e9\u30f3\u30b9\u306e\u826f\u3044\u98df\u4e8b\u3092\u6442\u308b\u3068\u3044\u3063\u305f\u4e00\u822c\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u304c\u3001\u30e9\u30f3\u30c0\u30e0\u5316\u81e8\u5e8a\u8a66\u9a13\u306b\u3088\u308b\u660e\u78ba\u306a\u52b9\u679c\u306e\u88cf\u4ed8\u3051\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>RP\u306f\u9032\u884c\u6027\u3067\u4e0d\u53ef\u9006\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u591a\u304f\u306e\u60a3\u8005\u304c\u8996\u899a\u969c\u5bb3\uff08visual impairment\uff09\u307e\u305f\u306f\u6cd5\u7684\u5931\u660e\uff08legal blindness\uff09\u306b\u81f3\u308a\u307e\u3059\u3002\u767a\u75c7\u5e74\u9f62\u3084\u907a\u4f1d\u5f62\u5f0f\u306b\u3088\u3063\u3066\u9032\u884c\u901f\u5ea6\u306b\u306f\u5927\u304d\u306a\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u5e38\u67d3\u8272\u4f53\u512a\u6027\u578b\u3067\u306f\u6bd4\u8f03\u7684\u9032\u884c\u304c\u7de9\u3084\u304b\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001X\u9023\u9396\u578b\u3084\u4e73\u5150\u671f\u767a\u75c7\u578b\u3067\u306f\u9032\u884c\u304c\u901f\u304f\u3001\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u9ec4\u6591\u75c5\u5909\uff08macular degeneration\uff09\u304c\u65e9\u671f\u306b\u73fe\u308c\u308b\u60a3\u8005\u3067\u306f\u8996\u529b\u306e\u4e88\u5f8c\u306f\u4e0d\u826f\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u73fe\u5728\u3067\u306f\u591a\u6570\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\uff08next-generation sequencing\uff09\u3084\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u306e\u767a\u5c55\u306b\u3088\u3063\u3066\u3001\u4eca\u5f8c\u3055\u3089\u306b\u591a\u304f\u306e\u539f\u56e0\u304c\u660e\u3089\u304b\u306b\u306a\u308b\u3068\u4e88\u60f3\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30c8\u30e9\u30f3\u30b9\u30af\u30ea\u30d7\u30c8\u30fc\u30e0\uff08transcriptome\uff09\u3084\u30d7\u30ed\u30c6\u30aa\u30fc\u30e0\uff08proteome\uff09\u89e3\u6790\u306b\u3088\u3063\u3066\u3001\u3055\u307e\u3056\u307e\u306a\u907a\u4f1d\u578b\u306b\u5171\u901a\u3059\u308b\u5206\u5b50\u7d4c\u8def\u304c\u660e\u3089\u304b\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u305d\u308c\u306b\u57fa\u3065\u304f\u6cbb\u7642\u6226\u7565\u306e\u958b\u767a\u304c\u9032\u3080\u3068\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u6cbb\u7642\u3001\u5e79\u7d30\u80de\u79fb\u690d\u3001\u4eba\u5de5\u7db2\u819c\u3001\u5149\u907a\u4f1d\u5b66\u306a\u3069\u3001RP\u306b\u5bfe\u3059\u308b\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u304c\u7740\u5b9f\u306b\u9032\u5316\u3057\u3066\u304a\u308a\u3001\u8fd1\u3044\u5c06\u6765\u3001\u8996\u899a\u306e\u90e8\u5206\u7684\u306a\u56de\u5fa9\u3042\u308b\u3044\u306f\u9032\u884c\u6291\u5236\u304c\u5b9f\u73fe\u3055\u308c\u308b\u53ef\u80fd\u6027\u306f\u73fe\u5b9f\u7684\u306a\u3082\u306e\u3068\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u6b63\u78ba\u306a\u907a\u4f1d\u5b50\u89e3\u6790\u306f\u3001\u3053\u3046\u3057\u305f\u6cbb\u7642\u7814\u7a76\u3078\u306e\u53c2\u52a0\u306b\u3082\u3064\u306a\u304c\u308b\u305f\u3081\u3001\u4eca\u5f8c\u306eRP\u8a3a\u7642\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e | References<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1097\/APO.0000000000000227\">Zhang, Q. (2016). Retinitis pigmentosa: Progress and perspective. Asia-Pacific Journal of Ophthalmology, 5(4), 265\u2013271. https:\/\/doi.org\/10.1097\/APO.0000000000000227<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/10889272\/\">Phelan, J. K., &amp; Bok, D. (2000). A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Mol Vis, 6(116), 24.<\/a><\/li>\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":30,"template":"page_gd.php","class_list":["post-33633","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\/33633","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":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33633\/revisions"}],"predecessor-version":[{"id":125511,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33633\/revisions\/125511"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33633"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}