Case Report of Recovery from Cortical Blindness in a Child with POLG1-Related Disease: A Three-Month Follow-Up

Recovery from complete cortical blindness is rarely documented in children. We report an 8-year-old with cortical blindness due to POLG1-related mitochondrial disease and status epilepticus. Initial presentation involved complete visual loss for about one month. Early recovery began with conscious color perception, suggesting reactivation of ventral visual pathway functions. Subsequent neuropsychological assessments revealed selective visual impairment, consistent with dorsal simultanagnosia, indicating persistent dorsal pathway dysfunction. These findings highlight differential trajectories of visual recovery after posterior cortical damage and illustrate, in this single case, how metabolic and structural constraints may shape functional reorganization in the developing visual system.