Leber hereditary optic neuropathy in a boy with fibrous boney dysplasia

To report a case of Leber hereditary optic neuropathy combined with fibrous boney dysplasia.

Case report.

A 16-year-old boy presented with painless vision loss in both eyes. He had a history of a right humerus fracture and right femoral fracture surgery after an uncomplicated fall. On examination in our clinic, his visual acuity was counting fingers at 20 cm OD and counting fingers at 40 cm OS. Both pupils reacted sluggishly to light. The findings on slit-lamp examination and funduscopy after pupillary dilation were all unremarkable. Computed tomography scans demonstrated fibrous dysplasia involving the right frontal, temporal, parietal, and occipital bones but no stenosis of either optic canal. His serum alkaline phosphatase was 522 U/L (reference range: 40-150 U/L). His vision showed no improvement after intravenous methylprednisolone pulse therapy. Finally, a 11778 mitochondrial DNA mutation was detected. He still had no visual recovery after treatment with oral coenzyme Q10, vitamin B1, and citicoline.

Fibrous dysplasia of bone may be associated with Leber hereditary optic neuropathy, possibly due to the fact that it increases local oxygen consumption.