Leber Hereditary Optic Neuropathy in a Boy with Fibrous Boney Dysplasia

Purpose： To report a case of Leber hereditary optic neuropa- thy combined with fibrous boney dysplasia. Methods： Case report. Results： A 16-year-old boy presented with painless vision loss in both eyes. He had a history of a fight humerus fracture and right femoral fracture surgery after an uncomplicated fall. On examination in our clinic, his visual acuity was counting fin- gers at 20 cm OD and counting fingers at 40 cm OS. Both pupils reacted sluggishly to light. The findings on slit-lamp ex- amination and funduscopy after pupillary dilation were all un- remarkable. 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 mitochon- drial DNA mutation was detected. He still had no visual re- covery after treatment with oral coenzyme Q10, vitamin B1, and citicoline. Conclusion ： Fibrous dysplasia of bone may be associated with Leber hereditary optic neuropathy, possibly due to the fact that it increases local oxygen consumption.