May 2003
Volume 44, Issue 13
ARVO Annual Meeting Abstract  |   May 2003
Leber's Hereditary Optic Neuropathy (LHON) as a Chronic Disease: Evidence in Carriers and Affected in a Giant Brazilian Pedigree
Author Affiliations & Notes
  • A.A. Sadun
    Doheny Eye Institute, Los Angeles, CA, United States
  • V. Carelli
    University of Bologna, Bologna, Italy
  • S. Salomao
    Fed Univ Sao Paolo, Sao Paolo, Brazil
  • A. Berezovsky
    Fed Univ Sao Paolo, Sao Paolo, Brazil
  • P. Quiros
    Fed Univ Sao Paolo, Sao Paolo, Brazil
  • F. Sadun
    Rome, Italy
  • A. DeNegri
    Rome, Italy
  • J. Sherman
    Rome, Italy
  • T. Lam
    Rome, Italy
  • R. Belfort
    Rome, Italy
  • Footnotes
    Commercial Relationships  A.A. Sadun, None; V. Carelli, None; S. Salomao, None; A. Berezovsky, None; P. Quiros, None; F. Sadun, None; A. DeNegri, None; J. Sherman, None; T. Lam, None; R. Belfort, None.
  • Footnotes
    Support  International Foundation of Optic Nerve Diseases (IFOND) and RPB Senior Invest. Award
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 935. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      A.A. Sadun, V. Carelli, S. Salomao, A. Berezovsky, P. Quiros, F. Sadun, A. DeNegri, J. Sherman, T. Lam, R. Belfort; Leber's Hereditary Optic Neuropathy (LHON) as a Chronic Disease: Evidence in Carriers and Affected in a Giant Brazilian Pedigree . Invest. Ophthalmol. Vis. Sci. 2003;44(13):935.

      Download citation file:

      © ARVO (1962-2015); The Authors (2016-present)

  • Supplements

Abstract: : Purpose: To investigate in follow-up examination, using epidemiological, neuro-ophthalmological and psychophysical testing, on a previously described very large pedigree with Leber's Hereditary Optic Neuropathy (LHON). Methods: Last year we described a 300 member 11778 , J-haplogroup mtDNA molecular analyzed pedigree located in an area of rural Brazil. Our international field investigation team returned one year later for comprehensive follow-up examinations. We also performed more extensive psychophysical testing including F-M 100 color testing, electrophysiology and GDx quantitative nerve fiber layer analysis. Over 300 patients were contacted and over 200 re-examined. Results: Many of the LHON-Carriers demonstrated subtle but consistent impairments. In particular, we regularly found mild sectoral optic disc edema, blood vessel telangectasis, arcuate nerve fiber layer edema, mild arcuate visual field deficits, Tritan-axis dyschromatopsia, mild losses of high spatial frequency contrast sensitivity and GDx nerve fiber layer losses in the arcuate bundles. Each of these findings correlated well with the others. Comparison with examinations in the previous year demonstrated some new findings but also some reversals of impairments from before. For example, the areas of optic disc edema and telangectasis and the corresponding visual field deficits shifted. In LHON-Affected, there was further deterioration of visual acuity and evidence of progression as manifested by fundus and psychophysical findings. Conclusions: Contrary to conventional wisdom, LHON is not simply an apoplectic event followed by a stable condition. Carriers have subtle chronic and potentially reversible clinical findings and those with severe visual loss (so-called Affected) continue to demonstrate low-grade deterioration that is corroborated by post-mortem ultrastructural studies.

Keywords: neuro-ophthalmology: optic nerve • mitochondria • optic disc 

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.