title: Leber hereditary optic neuropathy in a boy with fibrous boney dysplasia.
abstract: OBJECTIVE
  To report a case of Leber hereditary optic neuropathy 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 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.
  
  
  CONCLUSIONS
  Fibrous dysplasia of bone may be associated with Leber hereditary optic neuropathy, possibly due to the fact that it increases local oxygen consumption.
authors.affiliation: Department of Ophthalmology, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Du
authors.affiliation: Department of Ophthalmology, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
authors.forename: Benli
authors.initials: B
authors.lastname: Jiang
authors.affiliation: Department of Ophthalmology, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
authors.forename: Kaijun
authors.initials: K
authors.lastname: Li
authors.affiliation: Department of Ophthalmology, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
authors.forename: Yanwen
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: He
mesh_terms: D000293:Adolescent; D001766:Blindness / Q000209:etiology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005357:Fibrous Dysplasia of Bone / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications*; D014057:Tomography, X-Ray Computed; D014792:Visual Acuity
chemical_list: D004272:DNA, Mitochondrial