{"id":17262,"date":"2026-01-22T01:06:34","date_gmt":"2026-01-22T01:06:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17262"},"modified":"2026-01-22T01:08:49","modified_gmt":"2026-01-22T01:08:49","slug":"congenital-microcoria","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/congenital-microcoria\/","title":{"rendered":"Congenital microcoria"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5c0f\u77b3\u5b54\uff08Congenital miosis\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u81e8\u5e8a\u7684\u306b\u306f\u3053\u306e\u540d\u79f0\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>MCOR\uff08\u7565\u79f0\uff09<\/li>\n\n\n\n<li>13q32.1\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u95a2\u9023\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u539f\u56e0\u907a\u4f1d\u5b50\u5ea7\u306b\u57fa\u3065\u3044\u305f\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6027\u5c0f\u77b3\u5b54\u75c7\uff08Familial microcoria\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u907a\u4f1d\u6027\u304c\u5f37\u3044\u305f\u3081\u3001\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u82e5\u5e74\u7dd1\u5185\u969c\uff08Juvenile glaucoma\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u6700\u3082\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u8ef8\u6027\u8fd1\u8996\uff08Axial myopia\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>13\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0932.1\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e13\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c32.1\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>Congenital microcoria\uff08\u4ee5\u4e0b\u3001MCOR\uff09\u306e\u767a\u75c7\u306b\u306f\u300113q32.1\u9818\u57df\u306b\u3042\u308b\u907a\u4f1d\u5b50\u7fa4\u3001\u7279\u306bTGIF1\u907a\u4f1d\u5b50\u5468\u8fba\u306e\u6b20\u5931\u3084\u5909\u7570\u304c\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TGIF1 (TGFB-Induced Factor Homeobox 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u80ce\u5150\u671f\u306e\u773c\u306e\u767a\u751f\u306b\u304a\u3044\u3066\u3001\u8679\u5f69\uff08\u8336\u76ee\uff09\u306e\u7b4b\u8089\u3084\u3001\u524d\u773c\u90e8\uff08\u773c\u306e\u524d\u306e\u65b9\u306e\u69cb\u9020\uff09\u306e\u5f62\u6210\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4eba\u9593\u306e\u77b3\u5b54\uff08\u77b3\u306e\u5927\u304d\u3055\uff09\u306f\u3001**\u300c\u77b3\u5b54\u62ec\u7d04\u7b4b\uff08\u7e2e\u3081\u308b\u7b4b\u8089\uff09\u300d<strong>\u3068<\/strong>\u300c\u77b3\u5b54\u6563\u5927\u7b4b\uff08\u5e83\u3052\u308b\u7b4b\u8089\uff09\u300d**\u306e2\u3064\u306e\u30d0\u30e9\u30f3\u30b9\u3067\u8abf\u6574\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80ce\u5150\u671f\u306b\u3001TGIF1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u30b7\u30b0\u30ca\u30eb\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u3001<strong>\u300c\u77b3\u5b54\u6563\u5927\u7b4b\u300d\u304c\u3046\u307e\u304f\u767a\u9054\u3057\u307e\u305b\u3093\uff08\u6b20\u640d\u307e\u305f\u306f\u4f4e\u5f62\u6210\uff09\u3002<\/strong><\/li>\n\n\n\n<li>\u305d\u306e\u7d50\u679c\u3001\u77b3\u3092\u5e83\u3052\u308b\u529b\u304c\u50cd\u304b\u305a\u3001\u62ec\u7d04\u7b4b\uff08\u7e2e\u3081\u308b\u529b\uff09\u3060\u3051\u304c\u4f5c\u7528\u3057\u7d9a\u3051\u308b\u305f\u3081\u3001\u77b3\u5b54\u304c\u6975\u7aef\u306b\u5c0f\u3055\u3044\u307e\u307e\u56fa\u5b9a\u3055\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> \u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3084\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u8abf\u7bc0\u3059\u308b\u9818\u57df\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u306a\u3069\uff09\u306e\u7570\u5e38\u304c\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u5831\u544a\u6570\u3082\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u65e5\u672c\u3092\u542b\u3081\u4e16\u754c\u4e2d\u3067\u5bb6\u7cfb\u5831\u544a\uff08\u5bb6\u65cf\u5185\u767a\u75c7\uff09\u304c\u306a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u6975\u3081\u3066\u7a00\u300d\u306a\u75be\u60a3\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u5358\u306a\u308b\u300c\u8fd1\u8996\u300d\u3084\u300c\u77b3\u304c\u5c0f\u3055\u3044\u4f53\u8cea\u300d\u3068\u3057\u3066\u898b\u904e\u3054\u3055\u308c\u3001\u8a3a\u65ad\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u3082\u4e00\u5b9a\u6570\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Congenital microcoria\u306e\u75c7\u72b6\u306f\u3001**\u300c\u6975\u7aef\u306b\u5c0f\u3055\u306a\u77b3\u5b54\u300d\u300c\u6563\u77b3\uff08\u77b3\u304c\u5e83\u304c\u308b\u3053\u3068\uff09\u306e\u6b20\u5982\u300d\u300c\u8fd1\u8996\u300d\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u751f\u6daf\u3092\u901a\u3058\u3066\u6700\u3082\u8b66\u6212\u3059\u3079\u304d\u5408\u4f75\u75c7\u3068\u3057\u3066\u300c\u7dd1\u5185\u969c\u300d**\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u77b3\u5b54\u30fb\u8679\u5f69\u306e\u7570\u5e38\uff08Pupillary &amp; Iris defects\uff09<\/strong><\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u6642\u304b\u3089\u898b\u3089\u308c\u308b\u3001\u6700\u3082\u5206\u304b\u308a\u3084\u3059\u3044\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u77b3\u5b54\uff08Microcoria\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77b3\u5b54\u5f84\uff08\u9ed2\u76ee\u306e\u771f\u3093\u4e2d\u306e\u7a74\u306e\u5927\u304d\u3055\uff09\u304c<strong>2mm\u4ee5\u4e0b<\/strong>\uff08\u591a\u304f\u306f1mm\u524d\u5f8c\uff09\u3068\u975e\u5e38\u306b\u5c0f\u3055\u3044\u3067\u3059\u3002\u300c\u30d4\u30f3\u30db\u30fc\u30eb\uff08\u91dd\u306e\u7a74\uff09\u300d\u306e\u3088\u3046\u3060\u3068\u8868\u73fe\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6697\u3044\u5834\u6240\u306b\u884c\u3063\u3066\u3082\u77b3\u5b54\u304c\u5e83\u304c\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6563\u77b3\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u79d1\u306e\u691c\u67fb\u3067\u4f7f\u3046\u300c\u6563\u77b3\u85ac\uff08\u30df\u30c9\u30ea\u30f3P\u306a\u3069\uff09\u300d\u3092\u70b9\u773c\u3057\u3066\u3082\u3001\u77b3\u5b54\u304c\u5e83\u304c\u308a\u307e\u305b\u3093\u3002\u3053\u308c\u306f\u3001\u85ac\u304c\u52b9\u304f\u306f\u305a\u306e\u300c\u6563\u5927\u7b4b\u300d\u305d\u306e\u3082\u306e\u304c\u5b58\u5728\u3057\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u6a5f\u80fd\u3057\u3066\u3044\u306a\u3044\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8679\u5f69\u306e\u83f2\u8584\u5316:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\uff08\u8336\u76ee\uff09\u306e\u7d44\u7e54\u304c\u8584\u304f\u3001\u306e\u3063\u307a\u308a\u3068\u3057\u3066\u898b\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u504f\u4f4d\uff08Corectopia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77b3\u5b54\u306e\u4f4d\u7f6e\u304c\u771f\u3093\u4e2d\u304b\u3089\u5c11\u3057\u305a\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8996\u6a5f\u80fd\u30fb\u5c48\u6298\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ef8\u6027\u8fd1\u8996\uff08Axial Myopia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306b\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u5f37\u5ea6\u306e\u8fd1\u8996\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u773c\u7403\u306e\u5965\u884c\u304d\uff08\u773c\u8ef8\u9577\uff09\u304c\u901a\u5e38\u3088\u308a\u9577\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6697\u6240\u3067\u306e\u898b\u3048\u306b\u304f\u3055:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6697\u3044\u5834\u6240\u3067\u3082\u77b3\u5b54\u304c\u5e83\u304c\u3089\u306a\u3044\u305f\u3081\u3001\u5149\u3092\u5341\u5206\u306b\u53d6\u308a\u8fbc\u3081\u305a\u3001\u591c\u9053\u306a\u3069\u304c\u4eba\u3088\u308a\u6697\u304f\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u591c\u76f2\u3068\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u6a5f\u80fd\u7684\u306a\u6697\u9806\u5fdc\u969c\u5bb3\u3068\u306a\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8996\u529b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9069\u5207\u306b\u773c\u93e1\u306a\u3069\u3067\u77ef\u6b63\u3059\u308c\u3070\u3001\u826f\u597d\u306a\u77ef\u6b63\u8996\u529b\uff081.0\u306a\u3069\uff09\u304c\u5f97\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u672a\u6cbb\u7642\u306e\u5f37\u5ea6\u8fd1\u8996\u3084\u4e71\u8996\u306b\u3088\u308b\u5f31\u8996\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7dd1\u5185\u969c\uff08Glaucoma\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u672c\u75be\u60a3\u306b\u304a\u3044\u3066\u6700\u3082\u533b\u5b66\u7684\u4ecb\u5165\u304c\u5fc5\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u30ea\u30b9\u30af:<\/strong> \u60a3\u8005\u3055\u3093\u306e\u7d0430\u301c50%\uff08\u5831\u544a\u306b\u3088\u3063\u3066\u306f\u305d\u308c\u4ee5\u4e0a\uff09\u304c\u3001\u751f\u6daf\u306e\u3046\u3061\u306b\u7dd1\u5185\u969c\u3092\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\u306e\u5f62\u6210\u7570\u5e38\u306b\u4f34\u3044\u3001\u773c\u306e\u4e2d\u306e\u6c34\uff08\u623f\u6c34\uff09\u306e\u51fa\u53e3\u3067\u3042\u308b\u300c\u9685\u89d2\uff08\u3050\u3046\u304b\u304f\uff09\u300d\u306e\u767a\u9054\u3082\u672a\u719f\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff08\u9685\u89d2\u5f62\u6210\u4e0d\u5168\uff09\u3002<\/li>\n\n\n\n<li>\u51fa\u53e3\u304c\u72ed\u304b\u3063\u305f\u308a\u3001\u8a70\u307e\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u305f\u3081\u3001\u773c\u5727\u304c\u4e0a\u304c\u308a\u3001\u8996\u795e\u7d4c\u304c\u30c0\u30e1\u30fc\u30b8\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u671f\uff08\u82e5\u5e74\u7dd1\u5185\u969c\uff09\u304b\u3089\u6210\u4eba\u671f\u307e\u3067\u69d8\u3005\u3067\u3059\u304c\u3001\u6bd4\u8f03\u7684\u82e5\u3044\u5e74\u9f62\u3067\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81ea\u899a\u75c7\u72b6\u304c\u306a\u3044\u307e\u307e\u9032\u884c\u3059\u308b\u305f\u3081\u3001\u5b9a\u671f\u691c\u8a3a\u304c\u547d\u7db1\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u773c\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767d\u5185\u969c:<\/strong> \u6c34\u6676\u4f53\u306e\u6fc1\u308a\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u8853\u304c\u5fc5\u8981\u306a\u5834\u5408\u3001\u77b3\u5b54\u304c\u5e83\u304c\u3089\u306a\u3044\u305f\u3081\u3001\u975e\u5e38\u306b\u9ad8\u5ea6\u306a\u624b\u8853\u624b\u6280\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u5265\u96e2:<\/strong> \u5f37\u5ea6\u8fd1\u8996\u306b\u4f34\u3044\u3001\u7db2\u819c\u5265\u96e2\u306e\u30ea\u30b9\u30af\u304c\u4e00\u822c\u306e\u4eba\u3088\u308a\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5168\u8eab\u75c7\u72b6\u306b\u3064\u3044\u3066<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u306f**\u300c\u773c\u306b\u9650\u5c40\u3057\u305f\u75c7\u72b6\u300d**\u306e\u307f\u3067\u3059\uff08\u975e\u75c7\u5019\u6027\uff09\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u300113q32\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u306f\u3001\u767a\u9054\u9045\u6ede\u3084\u8133\u6881\u6b20\u640d\u3001\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u30d4\u30a2\u30bd\u30f3\u75c7\u5019\u7fa4\uff08Pierson syndrome\uff09\u3068\u3044\u3046\u5225\u306e\u75be\u60a3\u3067\u3082\u5c0f\u77b3\u5b54\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u3053\u3061\u3089\u306f\u91cd\u7be4\u306a\u814e\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002\u672c\u7a3f\u306eCongenital microcoria\u3068\u306f\u533a\u5225\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>13\u756a\u67d3\u8272\u4f53\uff0813q32.1\uff09\u306e\u907a\u4f1d\u5b50\u7570\u5e38<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1a\u795e\u7d4c\u5824\u7d30\u80de\u306e\u5206\u5316\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u773c\u306e\u8679\u5f69\u306b\u3042\u308b2\u3064\u306e\u7b4b\u8089\u306f\u3001\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u30eb\u30fc\u30c4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77b3\u5b54\u62ec\u7d04\u7b4b\uff08\u7e2e\u3081\u308b\u7b4b\u8089\uff09\uff1a<\/strong> \u795e\u7d4c\u5916\u80da\u8449\u3068\u3044\u3046\u7d44\u7e54\u304b\u3089\u4f5c\u3089\u308c\u307e\u3059\u3002MCOR\u3067\u306f\u3053\u3061\u3089\u306f\u6b63\u5e38\u306b\u4f5c\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77b3\u5b54\u6563\u5927\u7b4b\uff08\u5e83\u3052\u308b\u7b4b\u8089\uff09\uff1a \u795e\u7d4c\u5824\u7d30\u80de\uff08Neural crest cells\uff09\u3068\u3044\u3046\u7d30\u80de\u304c\u79fb\u52d5\u30fb\u5206\u5316\u3057\u3066\u4f5c\u3089\u308c\u307e\u3059\u3002<br>MCOR\u3067\u306f\u300113q32.1\u9818\u57df\u306e\u907a\u4f1d\u5b50\uff08TGIF1\u306a\u3069\uff09\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u3053\u306e**\u300c\u6563\u5927\u7b4b\u3092\u4f5c\u308b\u30d7\u30ed\u30bb\u30b9\u300d\u3060\u3051\u304c\u9078\u629e\u7684\u306b\u5931\u6557**\u3057\u3066\u3057\u307e\u3046\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u4e00\u822c\u7684\u306a\u5f62\u5f0f\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304cMCOR\u3067\u3042\u308b\u5834\u5408\u3001<strong>50%\u306e\u78ba\u7387<\/strong>\u3067\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d78\u900f\u7387:<\/strong> \u307b\u307c100%\u3067\u3059\u3002\u3064\u307e\u308a\u3001\u5909\u7570\u3092\u53d7\u3051\u7d99\u3052\u3070\u3001\u307b\u307c\u78ba\u5b9f\u306b\u5c0f\u77b3\u5b54\u306e\u75c7\u72b6\u304c\u51fa\u307e\u3059\uff08\u75c7\u72b6\u306e\u5f37\u5f31\u306f\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong> \u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u300c\u5c0f\u77b3\u5b54\u300d\u3068\u300c\u6563\u77b3\u3057\u306a\u3044\u3053\u3068\u300d\u3092\u78ba\u8a8d\u3057\u3001\u4ed6\u306e\u75be\u60a3\u3092\u9664\u5916\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u691c\u67fb\uff08\u7d30\u9699\u706f\u9855\u5fae\u93e1\u691c\u67fb\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77b3\u5b54\u5f84\u3092\u6e2c\u5b9a\u3057\u307e\u3059\uff08\u660e\u6240\u30fb\u6697\u6240\uff09\u30022mm\u4ee5\u4e0b\u3067\u5909\u5316\u304c\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8679\u5f69\u306e\u539a\u307f\u3084\u69cb\u9020\uff08\u900f\u898b\u6027\u304c\u3042\u308b\u304b\u306a\u3069\uff09\u3092\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6563\u77b3\u8a66\u9a13:<\/strong> \u30df\u30c9\u30ea\u30f3P\u306a\u3069\u306e\u6563\u77b3\u85ac\u3092\u70b9\u773c\u3057\u300130\u5206\u5f8c\u3082\u77b3\u5b54\u304c\u5e83\u304c\u3089\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u6c7a\u5b9a\u7684\u306a\u8a3a\u65ad\u6839\u62e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9685\u89d2\u691c\u67fb\uff08\u30b4\u30cb\u30aa\u30b9\u30b3\u30d4\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7dd1\u5185\u969c\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306e\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002\u9685\u89d2\u306e\u69cb\u9020\uff08\u5e83\u3055\u3084\u5f62\u6210\u4e0d\u5168\u306e\u6709\u7121\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u5727\u691c\u67fb\u30fbOCT\uff08\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff09\u30fb\u8996\u91ce\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7dd1\u5185\u969c\u306e\u5146\u5019\uff08\u773c\u5727\u4e0a\u6607\u3001\u8996\u795e\u7d4c\u7dda\u7dad\u5c64\u306e\u83f2\u8584\u5316\u3001\u8996\u91ce\u6b20\u640d\uff09\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8d85\u97f3\u6ce2\u691c\u67fb\uff08A\u30e2\u30fc\u30c9\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u8ef8\u9577\uff08\u773c\u306e\u9577\u3055\uff09\u3092\u6e2c\u5b9a\u3057\u3001\u8ef8\u6027\u8fd1\u8996\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc5\u9808\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u3084\u5bb6\u65cf\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306e\u305f\u3081\u306b\u3001\u8840\u6db2\u691c\u67fb\u306713q32.1\u9818\u57df\u306e\u6b20\u5931\u3084<em>TGIF1<\/em>\u5909\u7570\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u5148\u5929\u7684\u306a\u69cb\u9020\u7570\u5e38\uff08\u6563\u5927\u7b4b\u306e\u6b20\u640d\uff09\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001**\u300c\u8996\u529b\u306e\u767a\u9054\u3092\u4fc3\u3059\u3053\u3068\uff08\u5f31\u8996\u4e88\u9632\uff09\u300d\u3068\u300c\u7dd1\u5185\u969c\u306b\u3088\u308b\u5931\u660e\u3092\u9632\u3050\u3053\u3068\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5c48\u6298\u77ef\u6b63\uff08\u773c\u93e1\u30fb\u30b3\u30f3\u30bf\u30af\u30c8\u30ec\u30f3\u30ba\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u8996\u30fb\u4e71\u8996\u306e\u77ef\u6b63:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u8fd1\u8996\u3092\u6301\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u65e9\u671f\uff083\u6b73\u5150\u5065\u8a3a\u524d\u5f8c\u3084\u305d\u308c\u4ee5\u524d\uff09\u304b\u3089\u9069\u5207\u306a\u773c\u93e1\u3092\u88c5\u7528\u3057\u3001\u7db2\u819c\u306b\u30d4\u30f3\u30c8\u3092\u5408\u308f\u305b\u3066\u8996\u529b\u3092\u80b2\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77b3\u5b54\u304c\u5c0f\u3055\u3044\u3053\u3068\u81ea\u4f53\u306f\u3001\u30d4\u30f3\u30db\u30fc\u30eb\u52b9\u679c\uff08\u30ab\u30e1\u30e9\u306e\u7d5e\u308a\u3092\u7d5e\u308b\u3068\u30d4\u30f3\u30c8\u304c\u5408\u3044\u3084\u3059\u304f\u306a\u308b\u539f\u7406\uff09\u306b\u3088\u308a\u3001\u88f8\u773c\u3067\u3082\u3042\u308b\u7a0b\u5ea6\u898b\u3048\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b63\u78ba\u306a\u8996\u6a5f\u80fd\u767a\u9054\u306b\u306f\u773c\u93e1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7dd1\u5185\u969c\u306e\u7ba1\u7406\uff08\u751f\u6daf\u306b\u308f\u305f\u308b\u6700\u91cd\u8981\u8ab2\u984c\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u5727\u304c\u9ad8\u3044\u5834\u5408\u3001\u70b9\u773c\u85ac\uff08\u30d7\u30ed\u30b9\u30bf\u30b0\u30e9\u30f3\u30b8\u30f3\u88fd\u5264\u3001\u70ad\u9178\u8131\u6c34\u9175\u7d20\u963b\u5bb3\u85ac\u3001\u03b2\u906e\u65ad\u85ac\u306a\u3069\uff09\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u30d4\u30ed\u30ab\u30eb\u30d4\u30f3\uff08\u7e2e\u52d5\u85ac\uff09\u306f\u3001\u3055\u3089\u306b\u77b3\u5b54\u3092\u5c0f\u3055\u304f\u3057\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u901a\u5e38\u306f\u4f7f\u7528\u3092\u907f\u3051\u308b\u304b\u614e\u91cd\u306b\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u70b9\u773c\u85ac\u3067\u773c\u5727\u304c\u4e0b\u304c\u3089\u306a\u3044\u5834\u5408\u3001\u624b\u8853\uff08\u30c8\u30e9\u30d9\u30af\u30ed\u30c8\u30df\u30fc\u3001\u30c8\u30e9\u30d9\u30af\u30ec\u30af\u30c8\u30df\u30fc\u3001\u30c1\u30e5\u30fc\u30d6\u30b7\u30e3\u30f3\u30c8\u624b\u8853\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9685\u89d2\u306e\u69cb\u9020\u7570\u5e38\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767d\u5185\u969c\u624b\u8853\uff08\u5fc5\u8981\u306a\u5834\u5408\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c06\u6765\u7684\u306b\u767d\u5185\u969c\u306b\u306a\u3063\u305f\u5834\u5408\u3001\u901a\u5e38\u306e\u624b\u8853\u3088\u308a\u3082\u96e3\u6613\u5ea6\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77b3\u5b54\u304c\u5e83\u304c\u3089\u306a\u3044\u305f\u3081\u3001\u624b\u8853\u4e2d\u306b\u77b3\u5b54\u3092\u7269\u7406\u7684\u306b\u5e83\u3052\u308b\u51e6\u7f6e\uff08\u8679\u5f69\u30d5\u30c3\u30af\u3084\u30ea\u30f3\u30b0\u306e\u4f7f\u7528\uff09\u3084\u3001\u77b3\u5b54\u5f62\u6210\u8853\uff08\u8679\u5f69\u3092\u5207\u958b\u3057\u3066\u77b3\u3092\u5e83\u3052\u308b\uff09\u3092\u4f75\u7528\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u77b3\u5b54\u5f62\u6210\u8853\uff08Pupilloplasty\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8996\u8ef8\uff08\u7269\u3092\u898b\u308b\u4e2d\u5fc3\uff09\u304c\u906e\u3089\u308c\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u773c\u5e95\u691c\u67fb\u306a\u3069\u306e\u305f\u3081\u306b\u3069\u3046\u3057\u3066\u3082\u77b3\u5b54\u3092\u5e83\u3052\u308b\u5fc5\u8981\u304c\u3042\u308b\u5834\u5408\u306b\u3001\u30ec\u30fc\u30b6\u30fc\u3084\u624b\u8853\u3067\u8679\u5f69\u306e\u4e00\u90e8\u3092\u5207\u958b\u3057\u3066\u3001\u4eba\u5de5\u7684\u306b\u77b3\u5b54\u3092\u5e83\u3052\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u5e83\u3052\u3059\u304e\u308b\u3068\u7729\u3057\u304f\u306a\u308b\uff08\u7f9e\u660e\uff09\u305f\u3081\u3001\u614e\u91cd\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u5171\u6709:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u512a\u6027\u907a\u4f1d\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u8aac\u660e\u3057\u3001\u89aa\u65cf\uff08\u89aa\u3001\u304d\u3087\u3046\u3060\u3044\u3001\u5b50\uff09\u306b\u3082\u672a\u8a3a\u65ad\u306e\u60a3\u8005\u3055\u3093\u304c\u3044\u306a\u3044\u304b\u78ba\u8a8d\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8efd\u3044\u8fd1\u8996\u3060\u3068\u601d\u3063\u3066\u3044\u305f\u5bb6\u65cf\u304c\u3001\u5b9f\u306fMCOR\u3067\u7dd1\u5185\u969c\u4e88\u5099\u8ecd\u3060\u3063\u305f\u3001\u3068\u3044\u3046\u30b1\u30fc\u30b9\u304c\u3042\u308a\u5f97\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6563\u77b3\u85ac\u304c\u52b9\u304b\u306a\u3044\u4f53\u8cea\u3067\u3042\u308b\u3053\u3068\u3092\u8a18\u8f09\u3057\u305f\u300c\u533b\u7642\u7528\u30ab\u30fc\u30c9\u300d\u306a\u3069\u3092\u643a\u5e2f\u3059\u308b\u3053\u3068\u3092\u63a8\u5968\u3057\u307e\u3059\uff08\u6551\u6025\u6642\u3084\u4ed6\u306e\u773c\u79d1\u53d7\u8a3a\u6642\u306b\u5f79\u7acb\u3061\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Congenital microcoria\uff08\u5148\u5929\u6027\u5c0f\u77b3\u5b54\u75c7\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u77b3\uff08\u77b3\u5b54\uff09\u304c\u5c0f\u3055\u304f\u3001\u6697\u3044\u3068\u3053\u308d\u3084\u76ee\u85ac\u3092\u4f7f\u3063\u3066\u3082\u5e83\u304c\u3089\u306a\u3044\u3068\u3044\u3046\u3001\u975e\u5e38\u306b\u73cd\u3057\u3044\u76ee\u306e\u7279\u5fb4\u3092\u6301\u3064\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u3067\u3001\u77b3\u3092\u5e83\u3052\u308b\u305f\u3081\u306e\u7b4b\u8089\uff08\u6563\u5927\u7b4b\uff09\u3060\u3051\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u307e\u305a\u5b89\u5fc3\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u3053\u306e\u75c5\u6c17\u81ea\u4f53\u306f\u9032\u884c\u3057\u3066\u60aa\u304f\u306a\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3057\u3001\u77b3\u304c\u5c0f\u3055\u3044\u3053\u3068\u81ea\u4f53\u3067\u5931\u660e\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3080\u3057\u308d\u3001\u5c0f\u3055\u3044\u77b3\u306f\u300c\u30d4\u30f3\u30db\u30fc\u30eb\u30ab\u30e1\u30e9\u300d\u306e\u3088\u3046\u306a\u52b9\u679c\u3092\u6301\u3061\u3001\u773c\u93e1\u304c\u306a\u304f\u3066\u3082\u610f\u5916\u3068\u30d4\u30f3\u30c8\u304c\u5408\u3063\u3066\u898b\u3048\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u6c17\u3092\u3064\u3051\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u5927\u5207\u306a\u30dd\u30a4\u30f3\u30c8\u304c2\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>1\u3064\u76ee\u306f**\u300c\u8fd1\u8996\u300d\u3067\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u8fd1\u8996\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u773c\u93e1\u3092\u4f5c\u308a\u3001\u30af\u30ea\u30a2\u306a\u8996\u754c\u3067\u8996\u529b\u3092\u80b2\u3066\u3066\u3042\u3052\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>2\u3064\u76ee\u306f\u300c\u7dd1\u5185\u969c\u300d\u3067\u3059\u3002\u76ee\u306e\u6c34\u306e\u51fa\u53e3\u304c\u72ed\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u5c06\u6765\u7684\u306b\u773c\u5727\u304c\u4e0a\u304c\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u75db\u307f\u306a\u3069\u306e\u81ea\u899a\u75c7\u72b6\u304c\u306a\u3044\u305f\u3081\u3001\u300c\u534a\u5e74\u306b1\u56de\u7a0b\u5ea6\u306e\u773c\u79d1\u5b9a\u671f\u691c\u8a3a\u300d**\u3092\u751f\u6daf\u306e\u7fd2\u6163\u306b\u3059\u308b\u3053\u3068\u304c\u3001\u76ee\u3092\u5b88\u308b\u305f\u3081\u306e\u6700\u5f37\u306e\u624b\u6bb5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3053\u306e\u7279\u5fb4\u306f\u89aa\u5fa1\u3055\u3093\u304b\u3089\u304a\u5b50\u3055\u3093\u3078\u3068\u53d7\u3051\u7d99\u304c\u308c\u308b\uff08\u907a\u4f1d\u3059\u308b\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u300c\u305d\u3046\u3044\u3048\u3070\u304a\u3070\u3042\u3061\u3083\u3093\u3082\u76ee\u304c\u60aa\u304b\u3063\u305f\u306a\u300d\u3068\u3044\u3063\u305f\u30a8\u30d4\u30bd\u30fc\u30c9\u304c\u3042\u308c\u3070\u3001\u3054\u5bb6\u65cf\u307f\u3093\u306a\u3067\u773c\u79d1\u691c\u8a3a\u3092\u53d7\u3051\u3066\u307f\u308b\u826f\u3044\u6a5f\u4f1a\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u6563\u77b3\u85ac\u304c\u52b9\u304b\u306a\u3044\u300d\u3068\u3044\u3046\u7279\u5fb4\u306f\u3001\u4ed6\u306e\u75c5\u9662\u306b\u304b\u304b\u308b\u3068\u304d\u306b\u3082\u91cd\u8981\u3067\u3059\u3002\u6bcd\u5b50\u624b\u5e33\u306a\u3069\u306b\u30e1\u30e2\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u533b\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5c02\u9580\u5bb6\u3092\u30d1\u30fc\u30c8\u30ca\u30fc\u306b\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3055\u3048\u6b20\u304b\u3055\u306a\u3051\u308c\u3070\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308a\u3001\u30b9\u30dd\u30fc\u30c4\u3092\u697d\u3057\u307f\u3001\u793e\u4f1a\u3067\u6d3b\u8e8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u300c\u3064\u3076\u3089\u306a\u77b3\u300d\u3092\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3068\u30b1\u30a2\u3067\u3001\u9577\u304f\u5927\u5207\u306b\u5b88\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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><strong>Touitou, I., et al.<\/strong> (2001). <em>A 4-Mb chromosomal deletion in 13q32 associated with congenital microcoria and absent B cells.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b13q32\u9818\u57df\u306e\u6b20\u5931\u304c\u5148\u5929\u6027\u5c0f\u77b3\u5b54\u75c7\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u907a\u4f1d\u5b66\u7684\u306b\u7279\u5b9a\u3057\u305f\u91cd\u8981\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Rouzier, C., et al.<\/strong> (2005). <em>Microcoria: a clinical and genetic study of 12 families.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e\u5bb6\u7cfb\u89e3\u6790\u3092\u884c\u3044\u3001MCOR\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u8fd1\u8996\u3001\u7dd1\u5185\u969c\u30ea\u30b9\u30af\uff09\u306813q32.1\u9818\u57df\u3078\u306e\u9023\u9396\u3092\u78ba\u8a8d\u3057\u305f\u5927\u898f\u6a21\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tawara, A., et al.<\/strong> (2005). <em>Iris micro-structure in a case of congenital microcoria with myopia.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65e5\u672c\u4eba\u306eMCOR\u60a3\u8005\u306b\u304a\u3051\u308b\u8679\u5f69\u306e\u5fae\u5c0f\u69cb\u9020\u3092\u89e3\u6790\u3057\u3001\u6563\u5927\u7b4b\u306e\u6b20\u640d\u3092\u75c5\u7406\u5b66\u7684\u306b\u8a3c\u660e\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Wiggs, J.L., et al.<\/strong> (2012). <em>Clinical features of five pedigrees with inherited microcoria and linkage to 13q32.<\/em> Archives of Ophthalmology.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u907a\u4f1d\u6027\u5c0f\u77b3\u5b54\u75c7\u306e5\u5bb6\u7cfb\u306e\u81e8\u5e8a\u50cf\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u3001\u7dd1\u5185\u969c\u767a\u75c7\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff08\u9685\u89d2\u5f62\u6210\u4e0d\u5168\uff09\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MacKinnon, S., et al.<\/strong> (2014). <em>Congenital microcoria: clinical features and molecular genetics.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bMCOR\u306e\u8a3a\u65ad\u304b\u3089\u7ba1\u7406\u307e\u3067\u3092\u7db2\u7f85\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u3002TGIF1\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#156600 MICROCORIA, CONGENITAL; MCOR<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u907a\u4f1d\u6027\u75be\u60a3\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u304a\u3051\u308b\u75be\u60a3\u5b9a\u7fa9\u3068\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> 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