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

Maria Camilla Rossi-Espagnet1,2, Martina Lucignani3, Luca Pasquini4,5

  • 1Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00100, Rome, Italy. mcamilla.rossi@opbg.net.

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Summary
This summary is machine-generated.

Diffusion tensor imaging reveals retrochiasmatic optic pathway alterations in Kearns Sayre syndrome (KSS), aiding topographical investigation of visual impairment.

Keywords:
Diffusion tensor imagingKearns Sayre syndromeLeukodystrophyMitochondrial disordersOptic pathway

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Area of Science:

  • Neuroimaging
  • Neuroscience
  • Ophthalmology

Background:

  • Kearns Sayre syndrome (KSS) is a mitochondrial disorder causing visual impairment.
  • Current electrophysiological methods lack topographical detail for optic damage.

Purpose of the Study:

  • To investigate retrochiasmatic optic pathway changes in KSS using diffusion tractography.
  • To compare these alterations with other white matter tracts.

Main Methods:

  • Diffusion tensor imaging (DTI) was performed on 8 KSS patients and 10 healthy controls.
  • Probabilistic tractography reconstructed optic radiations (OR), optic tracts (OT), inferior frontooccipital fasciculus (IFOF), and corticospinal tract (CST).
  • Diffusion parameters (FA, ADC, RD, AD) were analyzed for group differences.

Main Results:

  • KSS patients showed significant reductions in FA in OT, IFOF, and CST.
  • Increased RD was observed in OR, IFOF, CST, and right OT; increased ADC in OR and CST.
  • FA and ADC profiles revealed significant topographical differences in specific tracts between KSS and controls.

Conclusions:

  • DTI analysis of retrochiasmatic tracts is a valuable tool for investigating visual impairment in KSS.
  • This method provides topographical insights into optic pathway damage.