Research paperOphthalmology
Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1
EFEMP1 p.Arg140Trp variant associated with late-onset peripheral retinal degeneration
Why it matters
Heterozygous variants in EFEMP1 cause retinal disease
Keep in mind
Small sample size, limited to three families
References (1)
Source date: 10 Sept 2026 · International