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News
A single gene can cause two completely distinct retinal diseases, scientists have discovered. Researchers identified a new variant in the EFEMP1 gene that triggers a late-onset condition affecting peripheral and night vision — the opposite pattern of the central vision loss already linked to the same gene. Published in JAMA Ophthalmology, the finding could help explain inherited eye disorders that have long gone genetically unresolved.
An international research team has identified a previously unrecognized inherited retinal disease caused by a specific variant — p.Arg140Trp — in the EFEMP1 gene. Unlike the already-known EFEMP1 variant (p.Arg345Trp), which causes Doyne honeycomb retinal dystrophy and damages central vision, this newly described condition — dubbed EFEMP1-associated late-onset retinal degeneration (L-ORD) — primarily attacks the peripheral retina, impairing night vision and side vision while leaving central visual acuity intact for years.
What makes this disease especially tricky to catch: the retina can appear structurally normal on routine exam even as rod photoreceptor function is already significantly impaired. Researchers found that delayed recovery of rod-mediated vision after light exposure is a key functional marker — detectable before any visible structural damage occurs. The study, published in JAMA Ophthalmology, drew on three unrelated families across the US and Europe who shared the same rare variant.
Key Takeaways:
Why it matters: This discovery reshapes how clinicians should think about EFEMP1-related disease and highlights that the same gene can produce fundamentally opposite disease patterns. For patients with unexplained peripheral vision loss or night blindness, genetic testing for this variant could finally provide answers.
