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

  • Maria Camilla Rossi-EspagnetEmail author
  • Martina Lucignani
  • Luca Pasquini
  • Antonio Napolitano
  • Stefano Pro
  • Andrea Romano
  • Daria Diodato
  • Diego Martinelli
  • Daniela Longo
Paediatric Neuroradiology



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.


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.


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.


DTI evaluation of retrochiasmatic tracks may represent a useful tool to topographically investigate retrochiasmatic visual impairment in KSS.


Kearns Sayre syndrome Diffusion tensor imaging Mitochondrial disorders Optic pathway Leukodystrophy 



Kearns Sayre syndrome




Visual evoked potential


Fractional anisotropy


Apparent diffusion coefficient


Radial diffusivity


Axial diffusivity


Healthy controls


Pattern reversal visual evoked potential


Optic radiation


Optic tract


Inferior frontooccipital fasciculus


Corticospinal tract


Fiber orientation distribution


Global average


Local average


Progressive external ophthalmoplegia


Funding information


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

For this type of study, formal consent is not required.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Maria Camilla Rossi-Espagnet
    • 1
    • 2
    Email author
  • Martina Lucignani
    • 3
  • Luca Pasquini
    • 1
    • 2
  • Antonio Napolitano
    • 3
  • Stefano Pro
    • 4
  • Andrea Romano
    • 2
    • 5
  • Daria Diodato
    • 6
  • Diego Martinelli
    • 7
  • Daniela Longo
    • 1
  1. 1.Neuroradiology Unit, Imaging DepartmentBambino Gesù Children’s Hospital, IRCCSRomeItaly
  2. 2.NESMOS Department, Sant’Andrea HospitalSapienza UniversityRomeItaly
  3. 3.Medical Physics DepartmentBambino Gesù Children’s Hospital, IRCCSRomeItaly
  4. 4.Neurology Unity, Department of NeurosciencesBambino Gesù Children’s Hospital, IRCCSRomeItaly
  5. 5.Department of Odontostomatological and Maxillo-Facial Sciences, Umberto I HospitalSapienza UniversityRomeItaly
  6. 6.Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular MedicineBambino Gesù Children’s Hospital, IRCCSRomeItaly
  7. 7.Division of Metabolism and Research Unit of Metabolic BiochemistryBambino Gesù Children’s Hospital, IRCCSRomeItaly

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