{"id":2062,"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-en\/"},"modified":"2026-09-15T01:15:00","modified_gmt":"2026-09-14T16:15:00","slug":"2026-09-15-efemp1-peripheral-retina-en","status":"publish","type":"briefing","link":"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-09-15-efemp1-peripheral-retina-en\/","title":{"rendered":"A different EFEMP1 variant points to peripheral, not central, retinal disease"},"content":{"rendered":"

2026-09-15 01:15 KST<\/strong><\/p>\n

Researchers found that a different site in the same EFEMP1 gene can preferentially affect peripheral and low-light vision while central vision stays relatively preserved. The paper appeared online in JAMA Ophthalmology on 10 September 2026.<\/p>\n

This was a rare case series from three unrelated families. Prevalence, individual prediction and effective treatment remain unknown.<\/p>\n

Difference<\/h2>\n

The known p.Arg345Trp disorder tends to affect the central macula. The p.Arg140Trp pattern involved night blindness after midlife and peripheral atrophy with prolonged central preservation.<\/p>\n

Early signal<\/h2>\n

Four carriers among five at-risk relatives had delayed rod dark adaptation despite 20\/20 corrected vision and a normal-looking fundus.<\/p>\n

\"A
This AI-generated image explains the topic; it is not a photograph of the actual event, patient, observation, map or geological site.<\/figcaption><\/figure>\n

Evidence<\/h2>\n

Sequencing, family segregation, imaging, light- and dark-adapted field tests and protein experiments were combined. Clinical course still varied.<\/p>\n

Clinical meaning<\/h2>\n

Specialist evaluation may need peripheral function and dark adaptation when family history and late-onset night problems fit. This is not a self-diagnosis rule.<\/p>\n

Next<\/h2>\n

Larger cohorts must establish frequency and penetrance; long follow-up must test how far functional change precedes structural loss.<\/p>\n

Primary source and independent checks<\/h2>\n

JAMA Ophthalmology \uc6d0 \ub17c\ubb38 \uc11c\uc9c0<\/a><\/p>\n

Penn Medicine \uc5f0\uad6c \uc124\uba85<\/a><\/p>\n

University Hospital Bonn \ub3c5\ub9bd \uae30\uad00 \uc124\uba85<\/a><\/p>\n

Read in other languages<\/h2>\n

\ud55c\uad6d\uc5b4<\/a> \u00b7 English<\/a> \u00b7 Espa\u00f1ol<\/a> \u00b7 \u65e5\u672c\u8a9e<\/a> \u00b7 Ti\u1ebfng Vi\u1ec7t<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Across three unrelated families, EFEMP1 p.Arg140Trp tracked with late-onset peripheral retinal degeneration and night blindness. The study does not establish a common cause of eye disease or an available treatment.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":[],"class_list":["post-2062","briefing","type-briefing","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/briefing\/2062","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=2062"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}