Health · Medical Research · 46 mins ago
Researchers identify a rare genetic disease that affects night vision
Researchers have identified a rare genetic eye disease linked to EFEMP1 that can develop quietly for decades.
It is associated with a variant called p.Arg140Trp, which causes material to build up between cells in the eye.
The disease gradually affects the retina’s outer areas, leading to peripheral vision loss and difficulty seeing in dim light.
Researchers found that people may take unusually long to adjust to darkness, a sign that can appear before light-sensing cells are lost.
This condition differs from another EFEMP1-linked disease, which affects the macula and central vision first.
The team studied three unrelated European families with the variant and compared them with a family carrying the variant linked to the known condition.
How many people have the disease is not known, and larger studies are needed to estimate its prevalence.
Researchers identified a rare genetic eye condition linked to a variant in the EFEMP1 gene.
The condition can develop slowly for decades before causing progressive peripheral vision loss and difficulty seeing in dim light.
Researchers say slow recovery of vision after moving into darkness may reveal the disease before retinal cells are lost.
The newly identified variant, p.Arg140Trp, differs from an EFEMP1 variant associated with a condition that affects central vision first.
The study examined three unrelated European families with the variant and was published in JAMA Ophthalmology.
- Who
- Researchers studying families with the EFEMP1 gene variant.
- What
- They identified a rare genetic eye condition associated with progressive loss of peripheral vision and difficulty seeing in dim light.
- When
- The research was published on November 8, 2026.
- Where
- The study included three unrelated families in different European countries and researchers from several institutions.
- Why
- To describe the condition and identify signs that may allow it to be detected before retinal photoreceptor cells are lost.
This story does not have two clearly opposing sides.
The investigation began with a clinical description of a family in the United States.
Researchers expanded the investigation to three unrelated European families with the p.Arg140Trp variant.
The article reported that the research had been published in JAMA Ophthalmology.
- Gene
- EFEMP1
- Newly identified variant
- p.Arg140Trp
- Families studied
- Three unrelated European families with p.Arg140Trp
- Comparison variant
- p.Arg345Trp, associated with an already-known condition affecting central vision
- Publication
- JAMA Ophthalmology
What people are saying
We can detect a major abnormality in the way rod photoreceptors recover in darkness with retinas that still look structurally intact
This gives us a functional marker of disease at a stage when photoreceptor cells have not yet been lost
Lessons learned from these infrequent, late-onset genetic eye diseases offer glimpses at possible mechanisms of disease for much more frequent retinal problems