[Diagnostic and differential diagnostic potential of mitochondrial DNA assessment in patients with Leber's hereditary optic neuropathy].
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 neuropathy were examined. Mutations at np 3,460, np 11,778 and np 14,484 of mtDNA were tested by PCR-restriction fragment length polymorphism technique to detect DNA in peripheral blood. The samples were taken from 16 cases of clinically diagnosed LHON, 44 cases of suspected LHON, two cases of alcohol amblyopia, four cases of multiple sclerosis, five cases of autosomal dominant hereditary optic atrophy, 4 cases with primary open-angle glaucoma, three cases of spinocerebellar degeneration, and one case of ethambutol-induced optic neuropathy.


RESULTS
The mutation at np 11,778 was identified in 31 cases (39.2%), consisting of all the 16 clinically diagnosed LHON cases, thirteen cases (29.5%) of the suspected LHON, and the two cases of alcohol amblyopia. The remaining 48 cases were negative for mtDNA mutations at np 3,460, np 11,778, or np 14,484.


CONCLUSIONS
Assessment of mtDNA provides a useful diagnostic aid in confirming and excluding the diagnosis of LHON, particularly useful in cases without a family hereditary history and cases with cause unknown bilateral optic neuritis.
Feng
X
X
Department of Ophthalmology, Second Affiliated Hospital, China Medical University, Shenyang 110004, China.
Pu
W
W
Gao
D
D
D000328:Adult; D004262:DNA Restriction Enzymes / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length
D004272:DNA, Mitochondrial; D004262:DNA Restriction Enzymes