Optic Disc Pseudoedema Due to Leber Hereditary Optic Neuropathy

A 23-year-old woman developed sequential painless central vision loss in both eyes (right eye 5 months ago and left eye 2 months ago). Her examination showed bilateral optic neuropathies: visual acuity: 20/300 eccentrically OU (no improvement with pinhole); pupils: equal and reactive with no relative afferent pupillary defect; color vision: control plate only OD, 3/14 plates correct OU; visual fields: large cecocentral scotomas OU. Goldmann visual fields (GVF) showed bilateral cecocentral scotomas. Intravenous fluorescein angiography (IVFA) of both eyes showed no leakage from either optic disc on the late phases, indicating that the patient's disc elevation was consistent with optic disc pseudoedema rather than true disc edema. MRI brain and orbits with contrast was normal without optic nerve enhancement. NMO and MOG antibodies were negative. Genetic testing for LHON showed the m.3460 point mutation, confirming the diagnosis of LHON.