In
Figure 2, the percentage of vertical motion percepts in the MQ is depicted as a function of AR (AR = dot – distance
Horizontal/dot – distance
Vertical). For all groups, the percentage of vertical motion percepts increased with increasing AR—that is, the greater the horizontal dot distance (or smaller the vertical dot distance), the higher the frequency of vertical motion percepts. Only for the HC group the probability of vertical motion percepts eventually exceeded that of horizontal motion percepts. Importantly, in HC the frequency of vertical motion percepts of 50% or greater was reached already for an AR of less than 1.0, which is termed vertical bias (see Introduction). Remarkably, we did observe this well-known vertical bias only for HC. In clear contrast, for PWN and PWA we found a strong horizontal bias, that is, the mean percentage of vertical percepts of the total presented trials was 34% (median, 47%) and 11% (median, 10%, in contrast with 58% (median, 54%) for HC. For the PWN and PWA groups, the frequency of vertical motion percepts failed to exceed 50% for any of the used ARs, even for the largest AR of 1.25. The strong dominance of the horizontal motion percepts was clearly visible in PWN, but it was most pronounced for PWA. This pattern of findings was observed for both experimental conditions, the vertical distance constant and the horizontal distance constant.
In fact, the vertical bias decreased for both conditions from HC to PWN down to PWA, where we observed a distinct horizontal bias instead. This qualitative account (see
Fig. 2 for generalized linear mixed-effect binary logistic regression model and
Supplementary Fig. S1 for raw data) is corroborated by the statistical analysis, which comprised an analysis of variance with a generalized linear binary logistic regression mixed model (see Methods). As detailed in
Table 2, there was a significant effect of group and AR, and importantly an interaction of both, that is, the probability of perceiving vertical motion differs in a differential manner between the participant groups and for the different ARs. This is further supported by post hoc tests for the different ARs that demonstrated significant differences between the different groups as detailed in
Table 3. It should be noted that the two patient groups, PWN and PWA, not only differed from the controls, but also, for all ARs tested, from each other. The PWN versus PWA difference is also evident for responses collapsed across AR (0.75–1.25). This finding is further visualized in
Figure 3, depicting the overall median proportions of the percentage of the mean vertical motion perception to be 58% (median, 54%), 34% (median, 47%), and 11 (median, 10%), for HC, PWN, and PWA, respectively. It appears, therefore, that (i) nystagmus (PWN and PWA) decreases the frequency of vertical motion percepts and that (ii) there is a further reduction for PWA compared with PWN.
To test whether this finding might be related to stronger nystagmus in PWA than in PWN, we tested whether fixation instabilities differed between the two groups. Across 35 participants, Kruskal–Wallis test (
P < 0.001) showed only significant differences between HC versus PWA and HC versus PWN with a median proportion of fixation within 2° (4°): 100% (100%) versus 49% (87.5%) and 66% (90.5%), respectively (
P < 0.01) (see
Table 4). This finding affirms that the driving force of any distinctive motion percept of PWA might not be related to the fixation instability. To probe this idea further, two raters inspected the pattern of gaze directions on MP-1 perimetry printouts, owing to the absence of a detailed quantitative output. Based on the microperimetry fixation examination, fixation location patterns were inspected, where the raters had to decide whether most of points lie central or laterally displaced from fovea. Subsequently, for each patient group, the motion percept for those fixating laterally versus centrally was compared with identified lateralization of fixation as a possible mechanism to explain differences in motion perception. In fact, the laterally versus centrally fixating subjects had a comparable vertical motion percept of 47.4% (
n = 3) versus 45.9% (
n = 9) for PWN and 4.8% (
n = 2) versus 10.6% (
n = 10) for PWA. Taken together, compared with the main effects, the effect of gaze lateralization seemed to be negligible.
Because the degree of nystagmus-induced fixation instability did not differ between PWN and PWA, it seems that other factors distinguishing these two patient groups were driving the further decrease of vertical motion perception in PWA. Consequently, candidate factors, which are potentially related to altered perception of the bistable MQ in albinism, are BCVA, fixation stability, and optic nerve misrouting. We assessed this via correlation analyses that included all three participant groups. Higher fixation stability within 4° correlated significantly with higher proportions of vertical motion perception (
ρ = –0.52;
P < 0.001). There was also a correlation of better BCVA estimates with vertical motion perception, which might, at least partly, be due to its association with fixation instability. The optic nerve misrouting index, that is, VEP coefficients of interocular correlations, was also significantly correlated with the median frequency of the vertical motion percept (
ρ = 0.60;
P < 0.001) (see
Fig. 4).
PWA demonstrated indeed distinct functional and structural readouts of vision compared with PWN and HC. BCVA, a surrogate measure of visual function, was lowest in PWA versus PWN and HC (0.65 logMAR vs. 0.1 and –0.07 logMAR; P < 0.01).