Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?

Eur J Ophthalmol. 2008 Mar-Apr;18(2):309-12. doi: 10.1177/112067210801800225.


Purpose: Leber hereditary optic neuropathy (LHON) is recognized as the most common cause of isolated blindness in young men. The current study was designed to test whether LHON as a mitochondrial disease is associated with vascular functional alterations characterized by aortic elastic properties during echocardiography.

Methods: A total of 19 patients with typical features of LHON aged 42+/-13 years (10 males) were included. Their results were compared to 19 age- and gender-matched healthy controls. Aortic stiffness index was calculated from the echocardiographically derived aortic diameters and the clinical blood pressure data.

Results: In this patient population, the point mutation was present in 3460G>A position in five cases, in 11778G>A position in five cases, and in 14484T>C position in nine patients. Diastolic aortic diameter (26.0+/-2.5 mm vs 28.4+/-4.1 mm, p<0.05) and aortic stiffness index (5.1+/-2.6 vs 12.0+/-7.9, p<0.05) were significantly increased in LHON patients compared to controls.

Conclusions: Aortic stiffness can be increased in LHON disease, but further studies are warranted to confirm these findings in a larger LHON patient population with a more reliable method focusing on the pathophysiologic background.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aorta / physiopathology*
  • Blood Flow Velocity
  • Blood Pressure
  • DNA, Mitochondrial / genetics
  • Echocardiography
  • Elasticity
  • Female
  • Humans
  • Male
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / physiopathology*
  • Point Mutation
  • Prospective Studies
  • Ultrasonography, Doppler


  • DNA, Mitochondrial