Fig. 5
RP11 - RPE cells and photoreceptors have defective ciliogenesis and cilia morphology. a Immunostaining of RPE with cilia markers ARL13B (green) and pericentrin (red), with representative images shown from n = 3 independent experiments, scale bar 10 μm; b Quantification of cilia length and incidence showing significant reduction across both parameters in RP11 patients compared to the controls; c, d 2D TEM and 3D SBFSEM images showing shorter cilia in RP11 - RPE cells, with abnormal bulbous morphology, with representative images shown from n = 3 independent experiments, scale bar 500 nm (c), 1 μm (d); e Immunostaining of photoreceptors with cilia marker ARL13B (red), with representative images shown from n = 3 independent experiments; f Quantification of cilia length and frequency in photoreceptors showing significant reduction in RP11 patients compared to the controls; g, h 2D TEM and 3D SFBSEM images showing shorter cilia in patient-derived photoreceptors, with abnormal bulbous morphology, with representative images shown from n = 3 independent experiments, scale bar 500 nm (g), 1 μm (h). b, d, f, h Data shown as mean ± SEM, n = 3. Statistical significance of the indicated comparisons is indicated by n.s. not significant; ***p < 0.001; ****p < 0.0001 (one-way ANOVA test with Dunnett’s post hoc test correction for multiple testing)
