Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy.

Abstract

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.

• Authors: X Feng, W Pu, D Gao, Y Isashiki, N Ohba
• Journal: Chinese medical journal (Chin Med J (Engl)) Vol. 113 Issue 8 Pg. 743-6 (Aug 2000) ISSN: 0366-6999 [Print] China
• PMID: 11776061 (Publication Type: Journal Article)

Chemical References

• DNA, Mitochondrial

Topics

• Adolescent
• Adult
• Child
• DNA, Mitochondrial (genetics)
• Female
• Humans
• Male
• Middle Aged
• Optic Nerve Diseases (diagnosis, genetics)
• Point Mutation
• Polymerase Chain Reaction