Table 3.
OCT results and visual data of NPC1-P, NPC1-MC, and HCs
| HC | NPC1-P | [B] | Significance [p] | HC | NPC1-MC | [B] | Significance [p] | |
|---|---|---|---|---|---|---|---|---|
| pRNFL G [mean (SD) µm] | 105 (8) | 98 (11) | − 6.6964 | 0.0618 | 101 (8) | 100 (9) | − 1.0669 | 0.6646 |
| PMB [mean (SD) mm3] | 56 (6) | 54 (7) | − 2.3935 | 0.2454 | 55 (7) | 54 (10) | − 1.5707 | 0.5660 |
| TMV [mean (SD) mm3] | 2.19 (0.10) | 2.17 (0.12) | − 0.0438 | 0.2424 | 2.18 (0.08) | 2.18 (0.10) | 0.0020 | 0.9457 |
| mRNFL [mean (SD) mm3] | 0.14 (0.02) | 0.13 (0.01) | − 0.0131 | 0.0116 | 0.14 (0.01) | 0.14 (0.02) | − 0.0028 | 0.5590 |
| GCIP [mean (SD) mm3] | 0.62 (0.04) | 0.60 (0.05) | − 0.0306 | 0.0411 | 0.61 (0.04) | 0.61 (0.06) | 0.0049 | 0.7670 |
| OPONL [mean (SD) mm3] | 0.67 (0.06) | 0.66 (0.06) | − 0.0197 | 0.3754 | 0.66 (0.04) | 0.66 (0.04) | − 0.0013 | 0.9194 |
| Visual data available [% eyes] | 50 | 68 | 65 | 94 | ||||
| SVAE [mean dec, all eyes] | 1.3 | 0.6 | nd | nd | 1.0 | 1.1 | nd | nd |
| 100% chart letters [mean N] | 59 | 38 | nd | nd | 53 | 55 | nd | nd |
| 2.5% chart letters [mean N] | 31 | 11 | nd | nd | 26 | 26 | nd | nd |
Mean and SD (standard deviation) in µm or mm3; VA visual acuity, SVAE Snellen visual acuity equivalent decimal; 100%/2.5% low-contrast Sloan letter chart testing (2 m) – N (number) of chart symbols (range 0–70); nd not done (statistical analysis was not performed due to unevenly distributed missing values)
NPC1-P NPC1-Patients, NPC1-MC NPC1-mutation carriers, HC healthy control, OCT optical coherence tomography, B estimate, p value, pRNFL peripapillary retinal nerve fiber layer, PMB papillo-macular bundle, TMV total macular volume, mRNFL macular retinal nerve fiber layer, GCIP combined ganglion cell and inner plexiform layer, OPNL outer plexiform layer and outer nuclear layer