Structural Covariance and Heritability of the Optic Tract and Primary Visual Cortex in Living Human Brains

Individual differences among human brains exist at many scales, spanning gene expression, white matter tissue properties, and the size and shape of cortical areas. One notable example is an approximately 3-fold range in the size of human primary visual cortex (V1), a much larger range than is found in overall brain size. A previous study (Andrews et al., 1997) reported a correlation between optic tract (OT) cross-section area and V1 size in postmortem human brains, suggesting that there may be a common developmental mechanism for multiple components of the visual pathways. We evaluated the relationship between properties of the OT and V1 in a much larger sample of living human brains by analyzing the Human Connectome Project (HCP) 7 Tesla Retinotopy Dataset (including 107 females and 71 males). This dataset includes retinotopic maps measured with functional MRI (fMRI) and fiber tract data measured with diffusion MRI (dMRI). We found a negative correlation between OT fractional anisotropy (FA) and V1 surface area (r = -0.19). This correlation, although small, was consistent across multiple dMRI datasets differing in acquisition parameters. Further, we found that both V1 surface area and OT properties were correlated among twins, with higher correlations for monozygotic (MZ) than dizygotic (DZ) twins, indicating a high degree of heritability for both properties. Together, these results demonstrate covariation across individuals in properties of the retina (OT) and cortex (V1) and show that each is influenced by genetic factors.SIGNIFICANCE STATEMENT The size of human primary visual cortex (V1) has large interindividual differences. These differences do not scale with overall brain size. A previous postmortem study reported a correlation between the size of the human optic tract (OT) and V1. In this study, we evaluated the relationship between the OT and V1 in living humans by analyzing a neuroimaging dataset that included functional MRI (fMRI) and diffusion MRI (dMRI) data. We found a small, but robust correlation between OT tissue properties and V1 size, supporting the existence of structural covariance between the OT and V1 in living humans. The results suggest that characteristics of retinal ganglion cells (RGCs), reflected in OT measurements, are correlated with individual differences in human V1.