[Autosomal dominant infantile optic atrophy: ascending or descending degeneration?]

All patients with autosomal dominant infantile optic atrophy had a normal electro-oculogram (EOG) and a normal luminance electroretinogram (L-ERG). Patients with a typical blue sensitivity defect at the time of investigation had a normal pattern electroretinogram (P-ERG), while the visually evoked cortical potentials to pattern stimuli (P-VECP) showed a delayed latency and a decreased amplitude. Only in severe cases of the disease where the blue sensitivity defect was masked by a progressive concomitant colour blindness was there a reduced amplitude in the P-ERG. The P-VECP in these cases was not recordable. The findings suggest that the primary process in autosomal dominant infantile optic atrophy is in the optic nerve, the inner layers of the retina being affected secondarily.