Study Identifies New Genetic Eye Condition
Researchers link late-onset retinal degeneration to a variant in the EFEMP1 gene, which causes peripheral vision loss and night blindness.
Updated on Nov. 8, 2026 in Diseases — General
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Researchers have identified EFEMP1-associated late-onset retinal degeneration, called L-ORD, linked to the p.Arg140Trp variant of the EFEMP1 gene. The study, published September 10, 2026, in JAMA Ophthalmology, describes gradual loss of peripheral vision and difficulty seeing at dusk or at night.
Why it matters
The findings add a distinct inherited cause of retinal degeneration to the known set of conditions linked to EFEMP1, a gene also associated with a condition that affects central vision first. Recognizing the pattern may help clinicians distinguish L-ORD from related inherited eye diseases.
The evidence comes from a genetic and clinical study of three unrelated European families sharing the p.Arg140Trp variant, compared with a family carrying p.Arg345Trp. The researchers do not yet know how common the variant is, and larger studies are needed to establish its prevalence.
The players
JAMA Ophthalmology
A peer-reviewed medical journal published by the American Medical Association that focuses on eye disease research and clinical ophthalmology.
The details
Researchers identified the condition after a family in the United States, whose disease pattern resembled a C1QTNF5-related condition but lacked its variants, prompted further investigation. Collaborators then discovered a new EFEMP1 variant, leading the team to study families in Europe. Affected individuals showed unusually slow rod photoreceptor recovery when moving from light into low light, a finding the researchers suggest could serve as a functional marker of the condition.
Timeline
1998: A clinical description of the initial U.S. family began the investigation.
September 10, 2026: The study was published in JAMA Ophthalmology.
Health Landscape
The finding extends the classification of late-onset inherited retinal disease beyond the C1QTNF5-related condition that the initial U.S. family was thought to resemble. It shows that EFEMP1 variants can produce peripheral and night vision loss distinct from the central vision loss seen in other EFEMP1-associated disease.
People who notice gradual loss of peripheral vision or difficulty seeing at dusk should discuss the symptoms with an eye care professional. Genetic testing for EFEMP1 variants may become relevant for families with a similar pattern of vision loss.
The takeaway
Gradual loss of night and peripheral vision can have an inherited cause that is identifiable by genetic testing. Anyone with a family history of retinal disease should raise it with an eye specialist.
Further reading
For related background, see Diseases — General on Wisevoter.
Source note: This article includes information reported by SciTechDaily.
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