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. 2010 Dec;31(12):1900-6.
doi: 10.1002/hbm.20985. Epub 2010 May 13.

Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy

Valeria Barcella  1 , Maria A Rocca, Stefania Bianchi-Marzoli, Jacopo Milesi, Lisa Melzi, Andrea Falini, Luisa Pierro, Massimo Filippi
Affiliations

Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy

Valeria Barcella et al. Hum Brain Mapp. 2010 Dec.

Abstract

Patients with Leber's hereditary optic neuropathy (LHON) have loss of central vision with severe damage of small-caliber fibers of the papillomacular bundle and optic nerve atrophy. The aim of this study was to define the presence and topographical distribution of brain grey matter (GM) and white matter (WM) injury in LHON patients using voxel-based morphometry (VBM). The correlation of such changes with neuro-ophthalmologic findings and measurements of peripapillary retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) was also assessed. Dual-echo and fast-field echo scans were acquired from 12 LHON patients and 12 matched controls. VBM analysis was performed using SPM5 and an ANCOVA model. A complete neuro-ophthalmologic examination, including standardized automated Humphrey perimetry as well as average and temporal peripapillary RNFL thickness measurements were obtained in all the patients. Compared with controls, average peripapillary RNFL thickness was significantly decreased in LHON patients. LHON patients also had significant reduced GM volume in the bilateral primary visual cortex, and reduced WM volume in the optic chiasm, optic tract, and several areas located in the optic radiations (OR), bilaterally. Visual cortex and OR atrophy were significantly correlated with average and temporal peripapillary RNFL thickness (P < 0.001; r values ranging from 0.76 to 0.89). Brain damage in patients with LHON is not limited to the anterior visual pathways, but extends posteriorly to the OR and the primary visual cortex. Such a damage to the posterior parts of the visual pathways may be due either to trans-synaptic degeneration secondary to neuroaxonal damage in the retina and optic nerve or to local mitochondrial dysfunction.

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Figures

Figure 1
Figure 1
OCT from a patient with LHON. Graph of retinal nerve fiber layer (RNFL) thickness obtained with optic coherence tomography from a 20‐year‐old gentleman with Leber's hereditary optic neuropathy and disease duration of 18 months. Measurements below the <5th percentile of the normal distribution are represented in red. In both eyes a significant decrease of average and temporal RNFL thickness is appreciable.
Figure 2
Figure 2
GM loss in LHON. Statistical parametric mapping regions of grey matter (GM) loss in patients with Leber's hereditary optic neuropathy vs. controls, superimposed on the customized GM template, at a threshold of P < 0.05 corrected for multiple comparisons. Images are in neurological convention.
Figure 3
Figure 3
WM loss in LHON. Clusters of significant white matter (WM) loss (in yellow/red) in patients with Leber's hereditary optic neuropathy superimposed on an anatomical probabilistic map of the optic radiations (OR) available in the SPM Anatomy toolbox (http://www.fz-juelich.de/ime/spm_anatomy_toolbox). Reduced WM volume is visible in the chiasm and in several areas located in the ORs. Images are in neurological convention.
See this image and copyright information in PMC

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