Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier

A 26-year old warehouse employee first presented with subacute, holocephalic headache of moderate intensity, dizziness, and a “red, flickering pixel” in his right visual field, followed by two bilateral tonic-clonic seizures a few days later. The initial clinical examination, EEG, brain MRI and blood work were unremarkable except for rhabdomyolysis (CK ˜10.000 U/l; upper limit of normal is 190 U/l), which was considered as complication associated with tonic-clonic seizures. During the following months, the patient suffered from intermittend fluctuating right visual field phosphenes of increasing size and duration which became permanent later on.