To assess central retina function, psychophysical sensitivity was measured with fundus-guided microperimetry. The black arrow on the fundus/microperimetry grid overlay (
Fig. 3A) defines the position of the horizontal line scan (
Fig. 3B). Subject XLRS-001-RFS-325, a 10-year-old boy, had BCVA of 20/80 (0.6 logMAR) and a lower than normal (24.2 ± 2.4 dB) total mean sensitivity (12.8 dB) in the left eye (
Fig. 3A). This subject had a similar central TR thickness (333 μm) and smaller OS thicknesses (8.4 μm) compared to normal (318.1 ± 17.7 μm and 37.1 ± 5.7 μm, respectively). An area highlighting where the EZ line was absent from the central retina is enlarged. The red arrows point to where the EZ line stops (
Fig. 3B), which explains why the average of the central 10° OS for this subject was decreased. Conversely, the EZ line (red arrow) can be seen clearly across the macular region in a 19-year-old subject, XLRS-001-RFS-319 (
Fig. 3C). This individual had BCVA of 20/40 (0.4 logMAR), a near-normal mean sensitivity of 20.7 dB, and a comparable TR thickness (326 μm) compared to control (24.2 ± 2.4 dB and 318.1 ± 17.7 μm, respectively). This subject's OS thickness was 22 μm, which was larger than the mean OS thickness from all XLRS subjects (13.2 ± 6.6 dB;
Fig. 3C). Overall, the mean sensitivity in XLRS patients was lower than the control mean sensitivity (XLRS: 13.2 ± 6.6 dB; control: 24.2 ± 2.4 dB;
P = 0.0008).
To evaluate the relationship between anatomical features and psychophysical functional measures, the sensitivity or BCVA was analyzed against central TR and macular OS thickness in XLRS subjects. The TR thickness had a weak relationship (
R2 = 0.22,
P = 0.0158), but macular OS thickness was highly correlated (
Figs. 3D,
3E;
R2 = 0.55,
P = 0.0001) with mean sensitivity. Similarly, BCVA was weakly associated with TR (
R2 = 0.01,
P = 0.6166) but highly correlated with OS (
R2 = 0.79,
P < 0.0001) thickness in XLRS subjects (
Figs. 3F,
3G).