{"id":2063,"date":"2026-09-15T01:15:00","date_gmt":"2026-09-14T16:15:00","guid":{"rendered":"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-es\/"},"modified":"2026-09-15T01:15:00","modified_gmt":"2026-09-14T16:15:00","slug":"2026-09-15-efemp1-peripheral-retina-es","status":"publish","type":"briefing","link":"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-es\/","title":{"rendered":"Otra variante de EFEMP1 afecta primero la retina perif\u00e9rica"},"content":{"rendered":"<p><strong>2026-09-15 01:15 KST<\/strong><\/p>\n<p>Una posici\u00f3n distinta del mismo gen puede afectar visi\u00f3n perif\u00e9rica y adaptaci\u00f3n a oscuridad mientras preserva relativamente el centro. El estudio apareci\u00f3 el 10 de septiembre de 2026.<\/p>\n<p>Es una serie rara de tres familias; se desconocen prevalencia, predicci\u00f3n individual y terapia eficaz.<\/p>\n<h2>Diferencia<\/h2>\n<p>p.Arg345Trp suele da\u00f1ar la m\u00e1cula central; p.Arg140Trp mostr\u00f3 inicio en mediana edad y atrofia perif\u00e9rica.<\/p>\n<h2>Se\u00f1al temprana<\/h2>\n<p>Cuatro portadores ten\u00edan adaptaci\u00f3n de bastones lenta pese a visi\u00f3n 20\/20 y fondo aparentemente normal.<\/p>\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" src=\"https:\/\/onepress.co.kr\/wp-content\/uploads\/2026\/09\/efemp1-peripheral-retina-es.png\" alt=\"Otra variante de EFEMP1 afecta primero la retina perif\u00e9rica\" loading=\"lazy\" \/><figcaption class=\"op-briefing-image-caption\">Esta imagen generada por IA explica el tema; no es una fotograf\u00eda del evento, paciente, observaci\u00f3n, mapa o lugar geol\u00f3gico real.<\/figcaption><\/figure>\n<h2>Prueba<\/h2>\n<p>Se combinaron secuenciaci\u00f3n, segregaci\u00f3n familiar, im\u00e1genes, campos visuales y ensayos de prote\u00edna.<\/p>\n<h2>Cl\u00ednica<\/h2>\n<p>Puede justificar evaluar periferia y adaptaci\u00f3n oscura en casos compatibles, pero no sirve para autodiagn\u00f3stico.<\/p>\n<h2>Siguiente<\/h2>\n<p>Cohortes mayores y seguimiento deben medir frecuencia, penetrancia y ventana temprana.<\/p>\n<h2>Fuente primaria y comprobaciones independientes<\/h2>\n<p><a href=\"https:\/\/api.crossref.org\/works\/10.1001\/jamaophthalmol.2026.3828\" target=\"_blank\" rel=\"noopener noreferrer\">JAMA Ophthalmology \uc6d0 \ub17c\ubb38 \uc11c\uc9c0<\/a><\/p>\n<p><a href=\"https:\/\/www.pennmedicine.org\/news\/new-disease-causes-night-blindness-peripheral-vision-loss\" target=\"_blank\" rel=\"noopener noreferrer\">Penn Medicine \uc5f0\uad6c \uc124\uba85<\/a><\/p>\n<p><a href=\"https:\/\/www.ukbnewsroom.de\/neue-erbliche-netzhauterkrankung-entdeckt\/\" target=\"_blank\" rel=\"noopener noreferrer\">University Hospital Bonn \ub3c5\ub9bd \uae30\uad00 \uc124\uba85<\/a><\/p>\n<h2>Leer en otros idiomas<\/h2>\n<p><a href=\"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-ko\/\">\ud55c\uad6d\uc5b4<\/a> \u00b7 <a href=\"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-en\/\">English<\/a> \u00b7 <a href=\"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-es\/\">Espa\u00f1ol<\/a> \u00b7 <a href=\"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-ja\/\">\u65e5\u672c\u8a9e<\/a> \u00b7 <a href=\"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-vi\/\">Ti\u1ebfng Vi\u1ec7t<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>En tres familias no relacionadas, EFEMP1 p.Arg140Trp acompa\u00f1\u00f3 degeneraci\u00f3n perif\u00e9rica tard\u00eda y ceguera nocturna. No demuestra una causa com\u00fan ni un tratamiento disponible.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":[],"class_list":["post-2063","briefing","type-briefing","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/briefing\/2063","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/briefing"}],"about":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/types\/briefing"}],"wp:attachment":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/media?parent=2063"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}