Scientists identify new retinal disease linked to EFEMP1 gene
An international team reported a newly described late-onset retinal degeneration associated with a p.Arg140Trp variant in the EFEMP1 gene that primarily affects peripheral and low-light vision rather than central vision. The finding grew from a clinical family description beginning in 1998 and later identified in unrelated families across countries, and the work was published in JAMA Ophthalmology. Researchers found abnormal rod photoreceptor recovery in retinas that still appear structurally intact, offering a functional marker at an early stage. The variant's prevalence is unknown, so larger studies are needed to determine how many people may be affected.
The EFEMP1 p.Arg140Trp variant causes late-onset peripheral and night vision loss.
Context
Doctors first described an unusual family case in 1998. Researchers later found the p.Arg140Trp EFEMP1 variant in families in different countries. Larger studies could now check how common the variant is.
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