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Fig 1.

MRS voxel placement.

Representative voxel placement in magnetic resonance spectroscopy in the sensory cortex (upper row) and visual cortex (lower row). Both voxels are mixed tissue voxels comprising both grey and white matter.

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Table 1.

Vision-related quality of life.

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Fig 2.

VEP and MRS.

Differences in visual evoked potential (VEP) measurements and magnetic resonance spectroscopy between HNPP patients (in red) and healthy controls (HC, in grey). A) VEP P100 latency, B) visual cortex tCho, C) visual cortex tNAA, D) visual cortex tCr. P values are derived from multiple linear regression models (see results).

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Fig 2 Expand

Fig 3.

Optical Coherence Tomography.

Differences in retinal optical coherence tomography measurements between HNPP patients (in red) and healthy controls (HC, in grey). A) Peripapillary retinal nerve fiber layer thickness (pRNFL), B) pRNFL in the papulomacular bundle (PMB), C) pRNFL in the nasal hemisphere, D) total macular volume (TMV), E) ganglion cell and inner plexiform layer (GCIP), F) inner nuclear layer (INL). P values are derived from generalized estimating equation models.

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Fig 3 Expand

Table 2.

OCT measurements.

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Table 2 Expand

Table 3.

Brain atrophy.

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Table 3 Expand

Table 4.

MRS measurements.

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Table 4 Expand