Leber’s Hereditary Optic Neuropathy

Abstract

An 18-year-old male student came to the clinic because of gradual blurring of his right vision for the past 2 weeks. His vision dropped to 1/60 in the right eye, and he had normal acuity of 6/6 in the left. Color sense was only mildly impaired; he could identify 14 plates in the right eye and 15 plates in the left with the Ishihara test. Ophthalmoscopic examination showed a relatively normal disc in both eyes (Fig. 7.1) and a dense central scotoma in the right field (Fig. 7.2). Visual evoked potential was flat in the right eye and normal in the left eye (Fig. 7.3). However, pattern ERG was normal in both eyes with a relatively normal N95 in the right eye (Fig. 7.4). Increased peripapillary nerve fiber layer (RNFL) thickness was noted in the right eye by OCT examination. The average RNFL thickness was 115 μm in the right eye and 99 μm in the left (Fig. 7.5). Loss of the nasal half of the ganglion cell complex was also found in the right eye. The average GCL-IPL thickness was 71 μm in the right and 90 μm in the left eyes (Fig. 7.5). He received methylprednisolone 250 mg q6h intravenously for 3 days. Nevertheless, his vision did not recover. Peripheral blood DNA analysis revealed a mtDNA 11778G > A mutation. Two months later, the RNFL was still thickened in the right eye with average thickness of 118 μm in the right compared to 102 μm in the left. Nonetheless, the GCC complex was near totally lost in the right eye (Fig. 7.6).