July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Cardiovascular comorbidity in Leber’s hereditary optic neuropathy mtDNA 11778
Author Affiliations & Notes
  • Starleen Frousiakis
    Internal Medicine, Huntington Memorial Hospital, Pasadena, California, United States
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
  • Jeffrey Tran
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
  • Rustum Karanjia
    Ophthalmology, University of Ottawa, Ottawa, Ontario, Canada
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
  • Samuel Asanad
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
  • Jesse Gale
    Surgery and Anaesthesia, University of Otago, Otago, Wellington, New Zealand
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
  • Jack Tian
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
  • Andrew E Pouw
    Ophthalmology and Visual Science, Yale University, New Haven, Connecticut, United States
  • Gary Conrad
    Internal Medicine, Huntington Memorial Hospital, Pasadena, California, United States
  • Milton Moraes Filho
    Instituto de Olhos de Colatina, Colatina, Espirito Santo, Brazil
  • Solange Salomao
    Ophthalmology, Federal University of Sao Paulo, Sao Paulo, Brazil
  • Rubens Belfort Jr
    Ophthalmology, Federal University of Sao Paulo, Sao Paulo, Brazil
  • Peter A Quiros
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
    Ophthalmology, Doheny Eye Center, UCLA, Los Angeles, California, United States
  • Stratos Christianakis
    Internal Medicine, Huntington Memorial Hospital, Pasadena, California, United States
  • Valerio Carelli
    Scienze Neurologiche, Universita di Bologna, Bologna, Italy
  • Alfredo A Sadun
    Ophthalmology, Doheny Eye Institute, Los Angeles, California, United States
    Ophthalmology, Doheny Eye Center, UCLA, Los Angeles, California, United States
  • Footnotes
    Commercial Relationships   Starleen Frousiakis, None; Jeffrey Tran, None; Rustum Karanjia, None; Samuel Asanad, None; Jesse Gale, None; Jack Tian, None; Andrew Pouw, None; Gary Conrad, None; Milton Moraes Filho, None; Solange Salomao, None; Rubens Belfort Jr, None; Peter Quiros, None; Stratos Christianakis, None; Valerio Carelli, None; Alfredo Sadun, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 3366. doi:
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      Starleen Frousiakis, Jeffrey Tran, Rustum Karanjia, Samuel Asanad, Jesse Gale, Jack Tian, Andrew E Pouw, Gary Conrad, Milton Moraes Filho, Solange Salomao, Rubens Belfort Jr, Peter A Quiros, Stratos Christianakis, Valerio Carelli, Alfredo A Sadun; Cardiovascular comorbidity in Leber’s hereditary optic neuropathy mtDNA 11778. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3366.

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

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Abstract

Purpose : Systemic neurological and cardiovascular manifestations of the mitochondrial disease, Leber’s hereditary optic neuropathy (LHON), have been described, including various studies detailing symptomatic palpitations, syncope, and abnormal electrocardiographic findings in affected subjects [Ortiz RG Am J Ophthalmol 1992; Bower SC Lancet 1992; Nikoskelainen E Lancet 1994]. Given our previously presented findings of cardiac conduction abnormalities in the largest known pedigree of LHON 11778, the aim of this study was to investigate cardiovascular comorbidity in subjects with LHON 11778 mitochondrial DNA (mtDNA) mutation.

Methods : A retrospective chart review of data compiled from the Soave-Brazil pedigree, LHON 11778 mtDNA mutation, was performed. Two patient cohorts comprised of affected patients (n1=17) and asymptomatic carriers (n2=56) were compared to an age- and sex-matched off-pedigree controls (n3=29). All subjects had completed a multiple choice questionnaire, in their native language, pertaining to their cardiovascular history, including history of stroke, history of myocardial infarction, history of angina and history of palpitations. Descriptive statistics, such as age, gender and body mass index were also obtained.

Results : The overall prevalence of cardiovascular comorbidity in the study population was 51.3% (1.4% stroke, 0% myocardial infarction, 12.2% angina, 47.3% palpitations). History of cardiovascular comorbidity was present in 37.5% of affected patients, 48.7% of carriers, and 63.0% of controls. Age, gender, and LHON status were found to be associated with cardiovascular comorbidity at α=0.75 level, however, the final multivariate model found that LHON status was not associated with cardiovascular comorbidity after controlling for age and gender, based on an α=0.95 level. Female gender and increasing age were associated with an increased prevalence of cardiovascular comorbidity.

Conclusions : We did not find an increased prevalence of cardiovascular comorbidity in either affected or carrier LHON patients in this pedigree when compared to age matched controls by multivariant analysis. This suggests that the cardiac conduction changes in this same patient population are subclinical in nature.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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