Skip to main content
PMC home page
The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
. 1992 Sep;76(9):571–573. doi: 10.1136/bjo.76.9.571

Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.

F X Borruat 1, W T Green 1, E M Graham 1, M G Sweeney 1, J A Morgan-Hughes 1, M D Sanders 1
PMCID: PMC504353  PMID: 1420066

Abstract

A case is reported of a 63-year-old man with progressive central visual loss in one eye followed 11 months later by involvement of the fellow eye. A diagnosis of chronic ischaemic optic neuropathy was considered. However, despite a negative family history, the absence of electrocardiographic abnormalities, and minimal fundus changes a diagnosis of Leber's optic neuropathy was made on the basis of magnetic resonance imaging findings and the mitochondrial DNA mutation at base pair 11778.

Full text

PDF

Images in this article

571Image
on p.571
572Image
on p.572

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Boghen D. R., Glaser J. S. Ischaemic optic neuropathy. The clinical profile and history. Brain. 1975 Dec;98(4):689–708. doi: 10.1093/brain/98.4.689. [DOI] [PubMed] [Google Scholar]
  2. Holt I. J., Miller D. H., Harding A. E. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet. 1989 Dec;26(12):739–743. doi: 10.1136/jmg.26.12.739. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Howell N., Kubacka I., Xu M., McCullough D. A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet. 1991 May;48(5):935–942. [PMC free article] [PubMed] [Google Scholar]
  4. Huoponen K., Vilkki J., Aula P., Nikoskelainen E. K., Savontaus M. L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991 Jun;48(6):1147–1153. [PMC free article] [PubMed] [Google Scholar]
  5. Kermode A. G., Moseley I. F., Kendall B. E., Miller D. H., MacManus D. G., McDonald W. I. Magnetic resonance imaging in Leber's optic neuropathy. J Neurol Neurosurg Psychiatry. 1989 May;52(5):671–674. doi: 10.1136/jnnp.52.5.671. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Newman N. J., Lott M. T., Wallace D. C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991 Jun 15;111(6):750–762. doi: 10.1016/s0002-9394(14)76784-4. [DOI] [PubMed] [Google Scholar]
  7. Nikoskelainen E. K., Savontaus M. L., Wanne O. P., Katila M. J., Nummelin K. U. Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol. 1987 May;105(5):665–671. doi: 10.1001/archopht.1987.01060050083043. [DOI] [PubMed] [Google Scholar]
  8. Nikoskelainen E., Hoyt W. F., Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members. Arch Ophthalmol. 1983 Jul;101(7):1059–1068. doi: 10.1001/archopht.1983.01040020061011. [DOI] [PubMed] [Google Scholar]
  9. Nikoskelainen E., Hoyt W. F., Nummelin K., Schatz H. Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies. Arch Ophthalmol. 1984 Jul;102(7):981–989. doi: 10.1001/archopht.1984.01040030783017. [DOI] [PubMed] [Google Scholar]
  10. Nikoskelainen E., Nummelin K., Savontaus M. L. Does sporadic Leber's disease exist? J Clin Neuroophthalmol. 1988 Dec;8(4):225–229. [PubMed] [Google Scholar]
  11. Seedorff T. The inheritance of Leber's disease. A genealogical follow-up study. Acta Ophthalmol (Copenh) 1985 Apr;63(2):135–145. doi: 10.1111/j.1755-3768.1985.tb01526.x. [DOI] [PubMed] [Google Scholar]
  12. Sergott R. C., Cohen M. S., Bosley T. M., Savino P. J. Optic nerve decompression may improve the progressive form of nonarteritic ischemic optic neuropathy. Arch Ophthalmol. 1989 Dec;107(12):1743–1754. doi: 10.1001/archopht.1989.01070020825022. [DOI] [PubMed] [Google Scholar]
  13. Smith J. L., Hoyt W. F., Susac J. O. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol. 1973 Nov;90(5):349–354. doi: 10.1001/archopht.1973.01000050351002. [DOI] [PubMed] [Google Scholar]
  14. Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]

Articles from The British Journal of Ophthalmology are provided here courtesy of BMJ Publishing Group

RESOURCES