Case report
Open access
Jul 2026
When LHON Mimics Demyelination: Area Postrema Syndrome in Biallelic DNAJC30 Variants
This case further expands the neuro-ophthalmic spectrum associated with DNAJC30 variants and suggests that DNAJC30-related disease may closely mimic seronegative neuromyelitis optica spectrum disorder (NMOSD).
Kamil Dzwilewski, Magdalena Krygier, Jakub Szymarek et al.
· Journal of Clinical Medicine · 0 citations