Open access
Aug 2026
Homozygous ROM1 frameshift variant associated with late-onset retinal dystrophy.
This case adds to the evidence that biallelic ROM1 variants can independently cause retinal dystrophy and should be considered in the differential diagnosis of late-onset flecked retinopathies.
Patrick Krätschmer, David Jahnke, Denise Yang-Seeger et al.
· Ophthalmic Genetics · 0 citations