{"id":59516,"date":"2023-08-10T17:26:24","date_gmt":"2023-08-10T08:26:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=59516"},"modified":"2026-05-08T13:40:29","modified_gmt":"2026-05-08T04:40:29","slug":"microphthalmia-anophthalmia","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/microphthalmia-anophthalmia\/","title":{"rendered":"\u5c0f\u773c\u7403\u75c7\uff0f\u7121\u773c\u7403\u75c7\uff08VSX2\u95a2\u9023\uff09"},"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>\u5c0f\u773c\u7403\u75c7\uff08Microphthalmia\uff09\u304a\u3088\u3073\u7121\u773c\u7403\u75c7\uff08Anophthalmia\uff09\u306f\u3001\u773c\u306e\u767a\u751f\u7570\u5e38\u306b\u3088\u308a\u773c\u7403\u304c\u5c0f\u3055\u304f\u306a\u308b\u3001\u307e\u305f\u306f\u5b8c\u5168\u306b\u6b20\u5982\u3059\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002VSX2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u4e3b\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u7db2\u819c\u524d\u99c6\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3092\u5236\u5fa1\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u8a3a\u65ad\u306b\u306f\u773c\u79d1\u7684\u8a55\u4fa1\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3001\u6cbb\u7642\u306f\u7fa9\u773c\u88c5\u7740\u3084\u624b\u8853\u306b\u3088\u308b\u8996\u899a\u6a5f\u80fd\u306e\u88dc\u52a9\u304c\u4e2d\u5fc3\u3068\u306a\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>VSX2\uff5cMicrophthalmia\/Anophthalmia (VSX2-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5c0f\u773c\u7403\u75c7\uff08Microphthalmia\uff09\u304a\u3088\u3073\u7121\u773c\u7403\u75c7\uff08Anophthalmia\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u773c\u306e\u767a\u80b2\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u773c\u306e\u30b5\u30a4\u30ba\u304c\u901a\u5e38\u3088\u308a\u3082\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u773c\u306e\u69cb\u9020\u304c\u5b8c\u5168\u306b\u6b20\u5982\u3057\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002VSX2\uff08Visual System Homeobox 2\uff09\u907a\u4f1d\u5b50\u306f\u3001\u773c\u306e\u767a\u751f\u904e\u7a0b\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u5909\u7570\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u5c0f\u773c\u7403\u75c7\u3084\u7121\u773c\u7403\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u3001\u773c\u306e\u5f62\u6210\u7570\u5e38\u3068\u3057\u3066\u5358\u72ec\u3067\u767a\u751f\u3059\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u773c\u306e\u69cb\u9020\u306e\u4e00\u90e8\u304c\u6b20\u640d\u3059\u308b\u72b6\u614b\uff09\u3001\u767d\u5185\u969c\u3001\u8679\u5f69\u7570\u5e38\u306a\u3069\u306e\u5408\u4f75\u75c7\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002VSX2\u306f\u3001\u7db2\u819c\u524d\u99c6\u7d30\u80de\u306e\u5897\u6b96\u3068\u5206\u5316\u3092\u8abf\u7bc0\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u306f\u3001\u767a\u751f\u904e\u7a0b\u306b\u304a\u3051\u308b\u91cd\u8981\u306a\u30b7\u30b0\u30ca\u30eb\u7d4c\u8def\u3092\u963b\u5bb3\u3057\u3001\u91cd\u7be4\u306a\u773c\u5f62\u6210\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u5c0f\u773c\u7403\u75c7\u304a\u3088\u3073\u7121\u773c\u7403\u75c7\u306f\u3001\u4e21\u8005\u3092\u5408\u308f\u305b\u305f\u767a\u751f\u7387\u304c\u304a\u3088\u305d\u51fa\u751f1\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u907a\u4f1d\u7684\u306b\u591a\u69d8\u6027\u304c\u9ad8\u304f\u3001\u73fe\u5728\u307e\u3067\u306b90\u7a2e\u985e\u4ee5\u4e0a\u306e\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002VSX2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u5c0f\u773c\u7403\u75c7\u3001\u7121\u773c\u7403\u75c7\u3001\u30b3\u30ed\u30dc\u30fc\u30de\u3092\u542b\u3080\u300cMAC\uff08Microphthalmia, Anophthalmia, Coloboma\uff09\u300d\u75c7\u5019\u7fa4\u306e\u7d041.5%\u306e\u75c7\u4f8b\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5c0f\u773c\u7403\u75c7\u304a\u3088\u3073\u7121\u773c\u7403\u75c7\u306f\u3001\u5358\u72ec\u3067\u767a\u75c7\u3059\u308b\u300c\u975e\u75c7\u5019\u6027\uff08\u5b64\u767a\u6027\uff09\u300d\u306e\u5834\u5408\u3068\u3001\u4ed6\u306e\u5148\u5929\u7570\u5e38\u3092\u4f34\u3046\u300c\u75c7\u5019\u6027\u300d\u306e\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e3b\u306a\u539f\u56e0\u306f\u907a\u4f1d\u7684\u8981\u56e0\u3067\u3059\u304c\u3001\u80ce\u5150\u671f\u306e\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u3001\u50ac\u5947\u5f62\u6027\u3092\u6301\u3064\u85ac\u5264\u306e\u4f7f\u7528\u3001\u6bcd\u4f53\u306e\u55ab\u7159\u306a\u3069\u306e\u74b0\u5883\u56e0\u5b50\u3082\u767a\u75c7\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>VSX2\u907a\u4f1d\u5b50\u306f\u3001\u7db2\u819c\u306b\u7279\u7570\u7684\u306b\u767a\u73fe\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u773c\u306e\u767a\u751f\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7db2\u819c\u524d\u99c6\u7d30\u80de\u306e\u5897\u6b96\u3068\u5206\u5316\u3092\u8abf\u7bc0\u3059\u308b\u3068\u3068\u3082\u306b\u3001\u4ee3\u66ff\u7684\u306a\u7d30\u80de\u904b\u547d\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u6291\u5236\u3059\u308b\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002VSX2\u306e\u75c5\u7684\u5909\u7570\uff08\u30d1\u30bd\u30b8\u30a7\u30cb\u30c3\u30af\u30d0\u30ea\u30a2\u30f3\u30c8\uff09\u306f\u3001\u3053\u306e\u8ee2\u5199\u56e0\u5b50\u306e\u6a5f\u80fd\u3092\u55aa\u5931\u3055\u305b\u308b\u3053\u3068\u3067\u3001\u7db2\u819c\u5f62\u6210\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u75c5\u7684\u5909\u7570\u306f\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u5a92\u4ecbmRNA\u5206\u89e3\uff08Nonsense-Mediated Decay: NMD\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u304b\u3001DNA\u7d50\u5408\u306b\u5fc5\u8981\u306a\u30db\u30e1\u30aa\u30c9\u30e1\u30a4\u30f3\u3092\u6b20\u640d\u3057\u305f\u6a5f\u80fd\u4e0d\u5168\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u751f\u6210\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u5909\u7570\u306f\u3001\u4e21\u773c\u6027\uff08\u4e21\u5074\u6027\uff09\u306e\u5c0f\u773c\u7403\u75c7\u3084\u30b3\u30ed\u30dc\u30fc\u30de\u3068\u5f37\u304f\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u767d\u5185\u969c\u3084\u9310\u4f53-\u6746\u4f53\u6a5f\u80fd\u7570\u5e38\u3092\u4f34\u3046\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>VSX2\u95a2\u9023\u5c0f\u773c\u7403\u75c7\u306e\u75c7\u72b6\u306f\u3001\u500b\u3005\u306e\u75c7\u4f8b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u8efd\u5ea6\u306e\u773c\u30b5\u30a4\u30ba\u306e\u7e2e\u5c0f\u304b\u3089\u3001\u4e21\u773c\u306e\u5b8c\u5168\u306a\u6b20\u5982\u306b\u81f3\u308b\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u307e\u305f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30fb\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u8679\u5f69\u3001\u7db2\u819c\u3001\u8108\u7d61\u819c\u306e\u4e00\u90e8\u304c\u6b20\u640d\u3059\u308b\u5148\u5929\u7570\u5e38\uff09 \u30fb\u767d\u5185\u969c\uff08\u6c34\u6676\u4f53\u304c\u6fc1\u308a\u3001\u8996\u529b\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3059\u75c5\u614b\uff09 \u30fb\u5c0f\u89d2\u819c\uff08\u89d2\u819c\u304c\u901a\u5e38\u3088\u308a\u3082\u5c0f\u3055\u304f\u3001\u6e7e\u66f2\u304c\u5f37\u3044\u72b6\u614b\uff09 \u30fb\u89d2\u819c\u6df7\u6fc1\uff08\u89d2\u819c\u306e\u900f\u660e\u6027\u304c\u5931\u308f\u308c\u308b\u75c5\u614b\uff09 \u30fb\u7db2\u819c\u7570\u5f62\u6210\uff08\u7db2\u819c\u306e\u767a\u9054\u7570\u5e38\uff09 \u30fb\u773c\u88c2\u72ed\u5c0f\uff08\u77bc\u306e\u958b\u53e3\u90e8\u5206\u304c\u72ed\u3044\u72b6\u614b\uff09<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u773c\u306e\u7570\u5e38\u306b\u52a0\u3048\u3066\u767a\u9054\u9045\u5ef6\u3001\u30db\u30eb\u30e2\u30f3\u7570\u5e38\u3001\u96e3\u8074\u306a\u3069\u306e\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u6bd4\u8f03\u7684\u307e\u308c\u306a\u30b1\u30fc\u30b9\u3068\u3055\u308c\u3066\u3044\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>VSX2\u95a2\u9023\u5c0f\u773c\u7403\u75c7\u306e\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u7684\u8a55\u4fa1\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u8a3a\u65ad\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u4e3b\u306a\u691c\u67fb\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001\u773c\u79d1\u7684\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u7d30\u9699\u706f\u9855\u5fae\u93e1\u691c\u67fb\uff08\u30b9\u30ea\u30c3\u30c8\u30e9\u30f3\u30d7\u691c\u67fb\uff09\u3084\u773c\u5e95\u691c\u67fb\u3092\u7528\u3044\u3066\u3001\u773c\u306e\u5f62\u614b\u7570\u5e38\u306e\u6709\u7121\u3092\u8a73\u7d30\u306b\u8abf\u3079\u307e\u3059\u3002\u307e\u305f\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u773c\u7403\u306e\u5927\u304d\u3055\u3084\u5185\u90e8\u69cb\u9020\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u6cd5\uff08MRI\uff09\u3084\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u65ad\u5c64\u64ae\u5f71\uff08CT\uff09\u306b\u3088\u308b\u753b\u50cf\u8a3a\u65ad\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u773c\u7403\u306e\u907a\u6b8b\u7d44\u7e54\u306e\u6709\u7121\u3084\u3001\u8133\u306e\u5f62\u614b\u7570\u5e38\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09\u3084\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u7528\u3044\u3066\u3001VSX2\u304a\u3088\u3073\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u4e21\u30a2\u30ec\u30eb\uff08\u6bcd\u89aa\u7531\u6765\u3068\u7236\u89aa\u7531\u6765\u306e\u4e21\u65b9\uff09\u306bVSX2\u5909\u7570\u304c\u8a8d\u3081\u3089\u308c\u305f\u5834\u5408\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u52a0\u3048\u3066\u3001\u7db2\u819c\u306e\u6a5f\u80fd\u8a55\u4fa1\u306e\u305f\u3081\u306b\u3001\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u304c\u5b9f\u65bd\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u9310\u4f53-\u6746\u4f53\u6a5f\u80fd\u969c\u5bb3\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u6709\u7528\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u7684\u80cc\u666f\u304c\u8907\u96d1\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5206\u5b50\u8a3a\u65ad\u306e\u78ba\u5b9a\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u3001\u9069\u5207\u306a\u7ba1\u7406\u8a08\u753b\u3092\u7acb\u3066\u308b\u4e0a\u3067\u6975\u3081\u3066\u91cd\u8981\u3067\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>VSX2\u95a2\u9023\u5c0f\u773c\u7403\u75c7\u3084\u7121\u773c\u7403\u75c7\u306b\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u305b\u305a\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u8996\u899a\u6a5f\u80fd\u306e\u6700\u5927\u5316\u3068\u6574\u5bb9\u7684\u306a\u88dc\u52a9\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u7fa9\u773c\u306e\u88c5\u7740\u3084\u773c\u7aa9\u62e1\u5f35\u5668\u306e\u4f7f\u7528\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u773c\u7aa9\uff08\u773c\u7403\u304c\u53ce\u307e\u308b\u9aa8\u306e\u7a7a\u9593\uff09\u306e\u6b63\u5e38\u306a\u767a\u80b2\u3092\u4fc3\u3057\u3001\u9854\u8c8c\u306e\u975e\u5bfe\u79f0\u6027\u3092\u6700\u5c0f\u9650\u306b\u6291\u3048\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u30b3\u30ed\u30dc\u30fc\u30de\u306e\u4fee\u5fa9\u624b\u8853\u3084\u767d\u5185\u969c\u6458\u51fa\u624b\u8853\u3001\u89d2\u819c\u79fb\u690d\u306a\u3069\u306e\u5916\u79d1\u7684\u6cbb\u7642\u304c\u3001\u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b8b\u5b58\u8996\u529b\u304c\u3042\u308b\u60a3\u8005\u306b\u306f\u3001\u62e1\u5927\u93e1\u3084\u96fb\u5b50\u6a5f\u5668\u3092\u7528\u3044\u305f\u8996\u899a\u88dc\u52a9\u5177\u3001\u8996\u899a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u5229\u7528\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3082\u975e\u5e38\u306b\u91cd\u8981\u3067\u3042\u308a\u3001\u907a\u4f1d\u5f62\u5f0f\u3084\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u9069\u5207\u306a\u8aac\u660e\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u306e\u4eca\u5f8c\u306e\u8a08\u753b\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>VSX2\u95a2\u9023\u5c0f\u773c\u7403\u75c7\u3084\u7121\u773c\u7403\u75c7\u306e\u4e88\u5f8c\u306f\u3001\u773c\u306e\u767a\u9054\u7570\u5e38\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u7247\u773c\u6027\u306e\u5c0f\u773c\u7403\u75c7\u3067\u4ed6\u306e\u7570\u5e38\u304c\u5c11\u306a\u3044\u5834\u5408\u306f\u3001\u3042\u308b\u7a0b\u5ea6\u306e\u8996\u529b\u3092\u7dad\u6301\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e21\u773c\u6027\u7121\u773c\u7403\u75c7\u306e\u5834\u5408\u3001\u8996\u899a\u6a5f\u80fd\u306e\u56de\u5fa9\u306f\u671f\u5f85\u3067\u304d\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u65e9\u671f\u304b\u3089\u7fa9\u773c\u88c5\u7740\u3084\u8996\u899a\u88dc\u52a9\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u5be9\u7f8e\u7684\u306a\u6539\u5584\u3084\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\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<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\/10.3390\/genes14081573\">Basharat, R., Rodenburg, K., Rodr\u00edguez-Hidalgo, M., Jarral, A., Ullah, E., Corominas, J., Gilissen, C., Zehra, S. T., Hameed, U., Ansar, M., &amp; De Bruijn, S. E. (2023). Combined single gene testing and genome sequencing as an effective diagnostic approach for anophthalmia and microphthalmia patients. <em>Genes<\/em>, <em>14<\/em>(8), 1573. https:\/\/doi.org\/10.3390\/genes14081573<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3185030\/\">Reis, L. M., Khan, A., Kariminejad, A., Ebadi, F., Tyler, R. C., &amp; Semina, E. V. (2011). VSX2 mutations in autosomal recessive microphthalmia. <em>Molecular vision<\/em>, <em>17<\/em>, 2527\u20132532.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2147\/EB.S480996\">Napoli, F. R., Li, X., Hurtado, A. A., &amp; Levine, E. M. (2024). Microphthalmia and Disrupted Retinal Development Due to a <em>LacZ<\/em> Knock-in\/Knock-Out Allele at the <em>Vsx2<\/em> Locus. <em>Eye and Brain<\/em>, <em>16<\/em>, 115\u2013131. https:\/\/doi.org\/10.2147\/EB.S480996<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2014.05.002\">Williamson, K. A., &amp; FitzPatrick, D. R. (2014). The genetic architecture of microphthalmia, anophthalmia and coloboma. <em>European Journal of Medical Genetics<\/em>, <em>57<\/em>(8), 369\u2013380. https:\/\/doi.org\/10.1016\/j.ejmg.2014.05.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/discovery.ucl.ac.uk\/10180234\/2\/Final%20thesis%20copy%20JE%202023%20revisions%20approved.pdf\">Eintracht, J. (2023). <em>Patient-specific stem cell-derived optic vesicles reveal novel pathogenic variants and common disease mechanisms in microphthalmia<\/em> (Doctoral dissertation, UCL (University College London)).<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-59516","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\/59516","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\/59516\/revisions"}],"predecessor-version":[{"id":128113,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59516\/revisions\/128113"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=59516"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}