Chin Med J (Engl) 2000 Aug;113(8):743-6
Feng X, Pu W, Gao D, Isashiki Y,
Ohba N.
Department of Ophthalmology, Second
Affiliated Hospital of China Medical University, Shenyang 110003, China.
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.
CONCLUSION:
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.
PMID: 11776061 [PubMed - in process]