OBJECTIVE

To study the primary mutations of mitochondrial DNA (mtDNA) associated with Leber's hereditary optic neuropathy (LHON) in patients with optic neuropathy.

METHODS

Seventy-nine patients with a variety of bilateral optic neuropathies were examined. Mutations at np3460, np11,778 and np14,484 of mtDNA were tested by PCR-restriction detection in peripheral blood DNA from 16 cases of clinically probable LHON, 44 cases of possible LHON, 2 cases of alcohol amblyopia, 4 cases of multiple sclerosis, 5 cases of autosomal dominant optic atrophy, 4 cases of primary open-angle glaucoma, 3 cases of spinocerebellar degeneration, and 1 case of ethambutol-induced optic neuropathy.

RESULTS

The mutation at np11778 was identified in 31 cases (39.2%) to establish LHON, which consisted of: all 16 of clinically probable LHON cases, 13 cases (29.5%) of possible LHON, and 2 cases of alcohol amblyopia. The remaining 48 cases were negative for mtDNA mutations at np3460, np11 778, and np14,484.

CONCLUSIONS

Assessment of mtDNA provides a useful diagnostic aid in the definition and exclusion of LHON, in particular family history-negative, otherwise undefined bilateral optic nerve inflammatory disease.