A 26-year-old man was referred for a neuro-ophthalmological evaluation following the finding of painless acute visual loss and optic disc edema in his right eye.
A previous examination four months from onset of right eye visual loss reported a BCVA 0.05 OD and 0.63 OS, color vision defect and central scotoma at VF in OD. The optic disc was described as edematous with telangiectasias OD, and normal OS; whereas, OCT analysis reported RNFL thickening OD. (Figure 1) IV steroid therapy for 5 days was initiated about 6mos. after onset for the presumed diagnosis of optic neuritis. The patient self-administered idebenone 45mg twice. At the one-month follow-up, a slight improvement was noted in visual acuity and visual field.(Figure1). During hospitalization, genetic analysis identified the homoplasmic m.11778G>A mutation in ND4, leading to diagnosis of LHON and an increase in idebenone dosing to 900 mg/day.