Table 1. Clinical Characteristics of Patients Harboring Mutations in PDE6A and PDE6B Genes.
| Characteristic | PDE6A | PDE6B | Mean Difference (95% CI) | P Value, PDE6A vs PDE6B |
|---|---|---|---|---|
| Female, No./total No. (%) | 11/19 (58) | 17/35 (49) | NA | .51a |
| Age at diagnosis, mean (SD) [range], y | n = 18 14.83 (10.63) [5-42] |
n = 28 21.10 (11.56) [3-45] |
−6.27 (−13 to 0.50) |
.08b |
| Age at first visit with available data, mean (SD) [range], y | n = 19 38 (15.13) [7-60] |
n = 33 41.56 (12.73) [12-63] |
−3.56 (−11.60 to 4.52) |
.48b |
| Follow-up for BCVA, No. | n = 19 Range, 0-42 y |
n = 34 Range, 0-28 y |
NA | |
| 0 y | 1 | 10 | NA | NA |
| 1-5 y | 10 | 7 | NA | NA |
| 6-10 y | 2 | 7 | NA | NA |
| 11-15 y | 2 | 8 | NA | NA |
| >15 y | 4 | 2 | NA | NA |
| First visit available BCVAou, logMAR (SD) [Snellen equivalent] |
n = 19 0.36 (0.52) [20/40] |
n = 34 0.40 (0.38) [20/50] |
−0.04 (−0.30 to 0.22) |
.28b |
| Estimation of BCVAou decline, mean regression slope (SD) |
n = 17 0.04 (0.12) |
n = 22 0.02 (0.05) |
0.014 (−0.04 to 0.07) |
.88b |
| Follow-up for VF, No. | n = 15 Range, 0-35 y |
n = 22 Range, 0-25 y |
NA | NA |
| 0 y | 5 | 10 | NA | NA |
| 1-5 y | 7 | 6 | NA | NA |
| 6-10 y | 2 | 3 | NA | NA |
| 11-15 y | 0 | 0 | NA | NA |
| >15 y | 1 | 3 | NA | NA |
| First visit with available data, VFou, mean (SD), degrees |
n = 15 14.33 (7.12) |
n = 22 13.27 (6.77) |
1.06 (−3.66 to 5.78) |
.67b |
| Estimation of VFou decline, mean regression slope (SD) |
n = 10 − 1.18 (1.55) | n = 11 − 0.736 (0.873) |
−0.44 (−1.59 to 0.71) |
.48b |
| Night blindness as presenting symptom, No./total No. (%) | 12/15 (80) | 13/35 (37) | NA | .005a |
| Binocular normal color vision, No./total No. (%) | 8/18 (44) | 11/29 (38) | NA | .66a |
| Cataract and/or previous cataract surgery in at least 1 eye, No./total No. (%) | 12/19 (63) | 23/29 (79) | NA | .22a |
| Bilateral undetectable ffERG, No./total No. (%) | 15/18 (83) | 30/34 (88) | NA | .62a |
| Preserved EZ and ONL, No./total No. (%) | 17/18 (94) | 25/32 (78) | NA | .13a |
| Monolateral or bilateral SD-OCT evidence-based CME, No./total No. (%) | 6/19 (32) | 9/32 (28) | NA | .79a |
| Monolateral or bilateral ERM, No./total No. (%) | 6/19 (32) | 10/32 (31) | NA | .98a |
Abbreviations: BCVA, best-corrected visual acuity; BCVAou, mean BCVA between right and left eye; CME, cystoid macular edema; ERM, epiretinal membrane; EZ, ellipsoid zone; ffERG, full-field electroretinography; NA, not applicable; ONL, outer nuclear layer; SD-OCT, spectral-domain optical coherence tomography; VF, visual field; VFou, mean VF between right and left eye.
a
Pearson χ2 test.
b
Mann-Whitney test.