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Previous studies reported impaired visual information processing in patients with fragile x syndrome and in premutation carriers. In this study, we assessed the perception of biological motion (a walking point-light character) and mechanical motion (a rotating shape) in 25 female fragile x premutation carriers and in 20 healthy non-carrier controls. Stimuli were moving stimulus dots embedded among a cloud of noise dots. Sensitivity (d) for motion detection was determined. Emotional symptoms were assessed by Hamilton's depression and anxiety rating scales. Results revealed that the premutation carriers displayed lower sensitivities for biological and mechanical motion relative to the non-carriers. This deficit was more pronounced in the case of biological stimuli. The premutation carriers displayed higher depression and anxiety scores relative to the non-carriers. Higher depression, but not anxiety, scores were associated with decreased sensitivity for biological, but not mechanical, motion in the carrier group. These results suggest that motion perception deficits are detectable in fragile x premutation carriers, and that the impairment of biological motion perception is associated with depressive symptoms. (Contains 4 figures and 2 tables.)

Previous studies indicated impaired magnocellular (M) and relatively spared parvocellular (P) visual pathway functioning in patients with fragile X syndrome. In this study, we assessed M and P pathways in 22 female fragile X premutation carriers with normal intelligence and in 20 healthy non-carrier controls. Testing procedure included visual contrast sensitivity and vernier threshold measurements. Results revealed that carriers were selectively impaired on tests of M pathways (low spatial/high temporal frequency contrast sensitivity and frequency-doubling vernier), whereas they showed intact performance on P pathway tests. These results suggest that the deficit of the M pathway is an endophenotype of fragile X syndrome. (Contains 3 figures.)

Skottun and Skoyles (2009) recently presented a comment on Vernier acuity and magnocellular dysfunctions in fragile X premutation carriers (Keri & Benedek, 2009). The authors concluded that our finding that the magnocellular deficit, as revealed by luminance-contrast sensitivity measurements, is associated with impaired Vernier acuity for achromatic gratings does not mean that this procedure is suitable for the investigation of the magnocellular pathways, given that deficits outside the magnocellular system also lead to impaired Vernier acuity. However, Skottun and Skoyles (2009) did not consider the dissociation between achromatic and isoluminant color Vernier and the convergence of Vernier and luminance-contrast sensitivity measurements.