Objective: To compare the clinical characteristics of Leber hereditary optic neuropathy (LHON) with optic neuritis (ON).
Methods: The information of clinical manifestation and laboratory tests in 55 patients with LHON and 48 patients with ON were reviewed and analyzed.
Results: Compared with ON, LHON was more commonly found in male patients (46/55 vs 21/48) and onset at younger age (median 16 years vs 30 years). There were more LHON than ON patients with the decrease of visual acuity lasted more than two weeks (42/49 vs 10/48), severe damage in visual acuity whereas little pain sensation in eye associated with eye movement (3/55 vs 26/48), dominant single-phase course (53/55 vs 30/48), central scotoma (26/39 vs 12/35), and family history of maternal relatives (25/50 vs 2/48). The visual evoked potential, cerebral spinal fluid and brain magnetic resonance scanning revealed the involvement of inflammatory demyelination in the patients with LHON. Most patients with LHON could be confirmed by the mtDNA mutation examination.
Conclusions: Leber hereditary optic neuropathy has distinct clinical characteristics but overlap with optic neuritis in many aspects. mtDNA mutation examination can further confirm LHON in most of patients although a negative result may be seen in a small portion of patients showing typical manifestation of LHON.