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Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
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Extra-visual functional and structural connection abnormalities in Leber's hereditary optic neuropathy.

Maria A Rocca1, Paola Valsasina, Elisabetta Pagani

  • 1Neuroimaging Research Unit, Scientific Institute and University Ospedale San Raffaele, Milan, Italy.

Plos One
|February 25, 2011
PubMed
Summary

Leber's hereditary optic neuropathy (LHON) affects brain networks beyond the visual system, impacting auditory processing. This study reveals widespread functional and structural changes in LHON patients.

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Area of Science:

  • Neuroscience
  • Ophthalmology
  • Medical Imaging

Background:

  • Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease primarily affecting the optic nerve.
  • Previous research suggests potential neurological involvement beyond the visual system in LHON.

Purpose of the Study:

  • To investigate functional abnormalities in brain resting state networks (RSNs) in LHON patients.
  • To determine if these abnormalities are confined to the visual system or are more widespread.
  • To identify structural substrates of functional magnetic resonance imaging (fMRI) changes using diffusion tensor (DT) MRI.

Main Methods:

  • Acquired neuro-ophthalmologic assessment, DT MRI, and resting-state fMRI data from 13 LHON patients and 13 controls.
  • Analyzed RS fMRI data using independent component analysis and SPM5.
  • Performed DT MRI connectivity-based parcellation using primary visual and auditory cortices as seed regions.

Main Results:

  • LHON patients showed increased resting-state fluctuations in bilateral primary visual and auditory cortices compared to controls.
  • Decreased fluctuations were observed in the right lateral occipital cortex and right temporal occipital fusiform cortex in LHON patients.
  • Abnormalities correlated with retinal damage and disease duration, and structural connectivity differences were found, particularly in the auditory cortex.

Conclusions:

  • Functional and structural abnormalities in LHON extend beyond the visual network, involving the auditory network.
  • Findings suggest cross-modal plasticity between sensory modalities in patients with severe visual deficits.
  • LHON may represent a more complex neurological disorder than previously understood.