July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
A large epidemiological study of Leber’s hereditary optic neuropathy (LHON)
Author Affiliations & Notes
  • Alexander Liam Pearson
    Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada
  • Lissa Poincenot
    LHON Project at www.LHON.org, California, United States
  • Rustum Karanjia
    Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada
  • Footnotes
    Commercial Relationships   Alexander Pearson, None; Lissa Poincenot, None; Rustum Karanjia, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 2264. doi:
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      Alexander Liam Pearson, Lissa Poincenot, Rustum Karanjia; A large epidemiological study of Leber’s hereditary optic neuropathy (LHON). Invest. Ophthalmol. Vis. Sci. 2019;60(9):2264.

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

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Abstract

Purpose : Leber’s hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease, and results in acute/subacute, painless, profound loss of central and color vision. The current literature reports LHON as a “young man’s disease,” but this may be a self-fulfilling prophecy, with consequential underdiagnosis of females, older adults and children. We performed a cross-sectional study to analyze the epidemiology of LHON using a large international database of people affected by LHON.

Methods : 1489 people with a diagnosis of LHON confirmed by genetic testing were contacted through the LHON community and provided self-reported data (age of symptom onset, gender, mutations, and location), which was compiled and analyzed.

According to the World Health Organization, young people are individuals between the ages of 10 and 24. As a result, we took “young men” to refer to males between the ages of 10 and 24.

Results : In contrast to the existing literature, 45% of our data set consisted of “young men”. Unlike the traditional 5:1 male to female ratio, we found a 3:1 M:F ratio. The commonly reported peak in symptom onset (ages 14-26) was found only in males. 10.4% of those affected had LHON onset after age 50, whereas the current literature states only 5%. Below the age of 5 and after 45, the M:F ratio of conversion was approximately 1:1. As per the literature, we found that the m.11778 (69%), m.14484 (17%) and m.3460 (13%) were the most common mutations.

Conclusions : This is the largest epidemiological study of LHON to date. It suggests that females, older adults and children carrying a LHON mutation are at higher risk of losing vision than is generally expected. Contrary to the existing literature, LHON affects females and males of all ages, rather than just young men. This should prompt physicians to conduct genetic testing for LHON in patients who meet the clinical criteria, regardless of whether they fit the traditional demographics.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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