Hidden Eye Disease Stealing Night Vision

Scientists have identified a rare genetic eye disease linked to the EFEMP1 gene, specifically the p.Arg140Trp variant, which develops silently for decades before causing late-onset retinal degeneration (L-ORD). Affected individuals maintain good vision for most of their lives until they gradually experience peripheral vision loss and difficulties seeing in dim light or at dusk. The research, published in JAMA Ophthalmology on September 10, 2026, was led by an international team including experts from the University of Pennsylvania School of Medicine, University of Edinburgh, University of Basel, Charles University, and University of Bonn. The study details how this variant causes abnormally thick material to build up between cells in the eye, presenting a unique functional marker before photoreceptor cells are lost. A key diagnostic clue discovered by the team is the unusually slow recovery of vision when patients transition from a lighted setting into low light. This abnormal dark adaptation involves rod photoreceptors and can be detected while retinas still appear structurally intact, offering a critical early functional marker of the disease. Understanding this rare condition provides valuable insights into more common retinal disorders, such as age-related macular degeneration. Researchers emphasize that studying these infrequent, late-onset genetic eye diseases helps illuminate potential disease mechanisms for broader aging-related vision problems, guiding future therapeutic explorations.