Clinical Features of Genetically Proved Leber Hereditary Optic Neuropathy in China

Objective: To document clinical features of molecular proved Leber hereditary optic neuropathy in China. Background: LHON is well documented in western countries and some other Asian countries. In English literature very few studies addressed LHON in China. Method: Retrospective clinical chart review of molecular proved LHON patients seen in a university hospital during 2001 to 2005. Demographic, clinical features including visual acuity, visual field defects, family history, brain magnetic resonance image (MRI), cerebral spinal fluid examination and mitochondrial DNA mutation points were recorded. Results: Of 51 patients included, 40 cases (78.4%) were male. Patients' age at onset ranged 10 to 54 years with an average of 18.2 years. Only 17 (33.3%) patients reported positive family history. G11778A, T14484C and G3460A mutation accounted for 45 (88.2%), 4 (7.8%) and 2 (3.9%) cases respectively. Visual acuity worse than 0.1 was found in 65.5%, 87.5% and 75% of patients with G11778A, T14484C and G3460A patient respectively at onset, remained in 62.2%, 25% and 25% in these groups. Central scotoma was the commonest visual field defect. Brain MRI abnormality and oligo band of CSF was found in 6 (14.3%) and 5 (11.9%) patients with G11778A mutation while no other mutation patients showed similar abnormalities. Conclusion: clinical features of genetically proved LHON patients in china were documented. LHON patients in China shared similar clinical features with those reported in Western countries and other Asian countries. G11778A mutation accounted for nearly 90% LHON patients. T14484C and G3460A mutation patients showed better visual acuity recovery than 11778 mutation patients did. Some patients with G11778A mutation were associated with "MS-like" changes.