Skip to main content
NCBI home page
The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
. 1980 Oct;64(10):751–757. doi: 10.1136/bjo.64.10.751

Leber's optic neuropathy: clinical and visual evoked response studies in asymptomatic and symptomatic members of a 4-generation family.

I R Livingstone, F L Mastaglia, J W Howe, G E Aherne
PMCID: PMC1043810  PMID: 7426548

Abstract

A clinical and neuro-ophthalmological examination using tests of visual acuity, quantitative visual field analysis, tests of colour discrimination, ophthalmoscopy, and pattern visual evoked responses was performed on 2 symptomatic and 16 asymptomatic members of a family with Leber's optic neuropathy. The visual evoked responses were abnormal in the 2 clinically affected males and in 1 asymptomatic male. Tests of colour discrimination with Ishihara plates, the Farnsworth-Munsell 100 hue test, and the Nagel anomaloscope revealed abnormalities in 8 asymptomatic family members, with the Farnsworth-Munsell test proving to be the most sensitive to mild abnormalities of colour discrimination. The occurrence of detectable neuro-ophthalmological abnormalities within this family is in keeping with the expected pattern of transmission of Leber's optic neuropathy. The significance of detection of presymptomatically affected cases and asymptomatic carriers is discussed.

Full text

PDF
751

Selected References

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

  1. COLENBRANDER M. C. Observations on the heredity of Leber's disease. Ophthalmologica. 1962;144:446–450. doi: 10.1159/000304394. [DOI] [PubMed] [Google Scholar]
  2. Carroll W. M., Mastaglia F. L. Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family. Brain. 1979 Sep;102(3):559–580. doi: 10.1093/brain/102.3.559. [DOI] [PubMed] [Google Scholar]
  3. Erickson R. P. Leber's optic atrophy, a possible example of maternal inheritance. Am J Hum Genet. 1972 May;24(3):348–349. [PMC free article] [PubMed] [Google Scholar]
  4. Griffin J. F., Wray S. H. Acquired color vision defects in retrobulbar neuritis. Am J Ophthalmol. 1978 Aug;86(2):193–201. doi: 10.1016/s0002-9394(14)76811-4. [DOI] [PubMed] [Google Scholar]
  5. Harper P. S. Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen. J Med Genet. 1977 Dec;14(6):389–398. doi: 10.1136/jmg.14.6.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Nikoskelainen E., Sogg R. L., Rosenthal A. R., Friberg T. R., Dorfman L. J. The early phase in Leber hereditary optic atrophy. Arch Ophthalmol. 1977 Jun;95(6):969–978. doi: 10.1001/archopht.1977.04450060055002. [DOI] [PubMed] [Google Scholar]
  7. Seedorff T. Leber's disease. IV. Acta Ophthalmol (Copenh) 1969;47(4):813–821. doi: 10.1111/j.1755-3768.1969.tb03707.x. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. Trusiewicz D. Farnsworth 100-hue test in diagnosis of ethambutol-induced damage to optic nerve. Ophthalmologica. 1975;171(6):425–431. doi: 10.1159/000307566. [DOI] [PubMed] [Google Scholar]
  10. VERRIEST G. Further studies on acquired deficiency of color discrimination. J Opt Soc Am. 1963 Jan;53:185–195. doi: 10.1364/josa.53.000185. [DOI] [PubMed] [Google Scholar]
  11. Waardenburg P. J. Some remarks on the clinical and genetic puzzle of Leber's optic neuritis. J Genet Hum. 1969 Oct;17(3):479–495. [PubMed] [Google Scholar]
  12. Wallace D. C. A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain. 1970;93(1):121–132. doi: 10.1093/brain/93.1.121. [DOI] [PubMed] [Google Scholar]
  13. Wilson J. Leber's hereditary optic atrophy: a possible defect of cyanide metabolism. Clin Sci. 1965 Dec;29(3):505–515. [PubMed] [Google Scholar]

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

RESOURCES