X-Chromosome Insufficiency Alters Receptive Fields across the Human Early Visual Cortex.

Here, we investigated processing by receptive fields, a fundamental property of neurons in the visual system, using fMRI and population receptive field (pRF) mapping in 20 human females with monosomic Turner syndrome (TS) (mean age, 10.3 ± 2.0 years) versus 22 age- and sex-matched controls (mean age, 10.4 ± 1.9 years). TS, caused by X-chromosome haploinsufficiency in females, is associated with well-recognized effects on visuospatial processing, parieto-occipital cortical anatomy, and parietal lobe function. However, it is unknown whether these effects are related to altered brain structure and function in early visual areas (V1-V3) versus downstream parietal cortical regions. Results show that girls with TS have the following: (1) smaller volume of V1-V3, (2) lower average pRF eccentricity in early visual areas, and (3) sparser pRF coverage in the periphery of the visual field. Further, we examined whether the lower volume of early visual areas, defined using retinotopic mapping, in TS is due to smaller surface area or thinner cortex. Results show that girls with TS had a general reduction in surface area relative to controls in bilateral V1 and V2. Our data suggest the possibility that the smaller cortical surface area of early visual areas in girls with TS may be associated with a lower number of neurons, which in turn, leads to lesser coverage of the peripheral visual field compared to controls. These results indicate that X-chromosome haploinsufficiency associated with TS affects the functional neuroanatomy of early visual areas, and suggest that investigating pRFs in TS may shed insights into their atypical visuospatial processing.