June 2015
Volume 56, Issue 7
ARVO Annual Meeting Abstract  |   June 2015
Clinically-Significant Cardiac Pathology in Leber’s Hereditary Optic Neuropathy
Author Affiliations & Notes
  • Starleen E Frousiakis
    Ophthalmology, Univeristy of Southern California, Los Angeles, CA
  • Rustum Karanjia
    Ophthalmology, UCLA, Los Angeles, CA
  • Jeffrey S Tran
    Ophthalmology, University of Southern California, Woodland Hills, CA
  • Andrew E Pouw
    Ophthalmology, University of Southern California, Woodland Hills, CA
  • Chiara La Morgia
    Department of Ophthalmology, University of Bologna, Bologna, Italy
  • Milton Moraes
    Instituto de Olhos de Colatina, Colatina, Brazil
  • Solange Rios Salomao
    Federal University of Sao Paulo, Sao Paulo, Brazil
  • Peter Quiros
    Ophthalmology, UCLA, Los Angeles, CA
  • Valerio Carelli
    Department of Ophthalmology, University of Bologna, Bologna, Italy
  • Alfredo A Sadun
    Ophthalmology, UCLA, Los Angeles, CA
  • Footnotes
    Commercial Relationships Starleen Frousiakis, None; Rustum Karanjia, None; Jeffrey Tran, None; Andrew Pouw, None; Chiara La Morgia, None; Milton Moraes, None; Solange Salomao, None; Peter Quiros, None; Valerio Carelli, None; Alfredo Sadun, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 3856. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Starleen E Frousiakis, Rustum Karanjia, Jeffrey S Tran, Andrew E Pouw, Chiara La Morgia, Milton Moraes, Solange Rios Salomao, Peter Quiros, Valerio Carelli, Alfredo A Sadun; Clinically-Significant Cardiac Pathology in Leber’s Hereditary Optic Neuropathy. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3856.

      Download citation file:

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

  • Supplements

Purpose: To determine the association of clinically-significant cardiac pathology with status as a carrier or affected subject, and to compare previous findings on cardiac conduction in affected patients with Leber’s hereditary optic neuropathy (LHON), 11778 mutation, to a distinct pedigree.

Methods: Cardiac pathology was defined by past history of stroke, myocardial infarction, angina, and/or palpitations. Subjects were compared based on LHON status: control, carrier, or affected. A logistic regression model was constructed, controlling for age and body mass index (BMI). Data from a previously published cohort of affected Brazilian patients (n1=23) and newly-acquired values from a distinct Italian cohort (n2=21) were compared to a database of healthy controls (n2=87). Each population underwent ECG testing, performed by a cardiologist, with measurement of PR interval and QTc duration. An unpaired student’s t-test was performed to determine if there was a difference between affected populations and controls.

Results: The final regression model indicates that LHON status is not correlated with an increased prevalence of cardiac pathology in the sample population. Age is a significant predictor, but interaction between age and status did not yield a significant difference between groups. BMI was not found to be a significant predictor of cardiac pathology. Mean PR intervals and standard deviations in the Italian pedigree, Brazilian pedigree and control population were 140.6±20.6, 127.2±26.1 and 136.9±9.1, respectively. There was no significant difference detected in mean PR interval between the Italian pedigree and healthy controls, thereby validating the previously-published findings in the Brazilian population. However, this study similarly demonstrated a subgroup of patients within the Italian pedigree who had a shortened PR interval (n=2). There was no significant difference in QTc duration between affected and control populations in either pedigree.

Conclusions: Carrier and affected populations of LHON do not demonstrate increased prevalence of clinically-significant cardiac pathology. This study validated the previously published findings of a non-significant difference in PR interval and QTc duration in affected patients with LHON and controls. A subgroup of subjects with shortened cardiac conduction may be indicative of patients at increased risk for conduction defects.


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.