Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study

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Purpose: Kearns Sayre syndrome (KSS) is a mitochondrial disorder characterized by development of visual impairment. Electroretinogram (ERG) and visual evoked potentials are not able to provide topographical information of optic damage. The purpose of this study was to explore retrochiasmatic optic pathway alteration in KSS with diffusion tractographic analysis and to compare it with different tracts. Methods: DTI from 8 KSS subjects (14.7 years) and 10 healthy controls (HC) were acquired on a 3T scanner. Optic radiations (OR), optic tracts (OT), inferior frontooccipital fasciculus (IFOF) and corticospinal tract (CST) were reconstructed with probabilistic tractography. Fractional anisotropy (FA), apparent diffusion coefficient (ADC), radial (RD), and axial diffusivity (AD) were calculated, evaluating group differences. T test on diffusion parameters identified significantly different track portions among cohorts. Results: All patients had optic pathway alterations at electrophysiological examination. Significant lower FA were found in OT, IFOF, and CST of KSS group. RD was significantly higher in bilateral OR, IFOF, CST, and right OT, while ADC was higher in bilateral OR and CST. RD values were higher in the proximal and distal portion of OR bilaterally and in the distal portion of right OT, while widespread differences were found in IFOF and CST. No significant differences were found for AD. FA profiles analysis demonstrated significant differences between groups in several regions of OT, IFOF, and CST, while ADC assessment revealed spread differences in OR and CST. Conclusions: DTI evaluation of retrochiasmatic tracks may represent a useful tool to topographically investigate retrochiasmatic visual impairment in KSS. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature.
Original languageEnglish
Pages (from-to)241-249
Number of pages9
Issue number2
Publication statusPublished - 2020


  • Diffusion tensor imaging
  • Kearns Sayre syndrome
  • Leukodystrophy
  • Mitochondrial disorders
  • Optic pathway
  • adolescent
  • apparent diffusion coefficient
  • Article
  • axial diffusivity
  • clinical article
  • controlled study
  • diffusion tensor imaging
  • electrophysiology
  • female
  • fractional anisotropy
  • human
  • inferior frontooccipital fasciculus
  • male
  • nerve tract
  • optic tract
  • priority journal
  • pyramidal tract
  • radial diffusivity
  • tractography
  • visual system
  • anisotropy
  • case control study
  • computer assisted diagnosis
  • diagnostic imaging
  • pathology
  • procedures
  • visual evoked potential
  • Adolescent
  • Anisotropy
  • Case-Control Studies
  • Diffusion Tensor Imaging
  • Evoked Potentials, Visual
  • Female
  • Humans
  • Image Interpretation, Computer-Assisted
  • Kearns-Sayre Syndrome
  • Male
  • Pyramidal Tracts
  • Visual Pathways

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