Table 2 Clinical characteristics of the affected individuals with bi-allelic crumbs cell polarity complex component 1 (CRB1) mutations
Clinical characteristics | Participants (N = 439) | |
|---|---|---|
Meana | SDb | |
IRD condition (n = 372)* | ||
LCA | 159 (43%) | |
RCD | 125 (37%) | |
RD | 32 (9%) | |
Early Onset Retinal Dystrophy | 30 (7%) | |
Other | 33 (9%) | |
Vision | ||
BCVA OU (LogMAR, n = 331) | 1.6 | 1.1 |
Refraction OU Spherical (n = 54)f | 5.6 | 2.8 |
Fundus Characteristics | ||
Macular condition (n = 188) | ||
Atrophy | 60 (32%) | |
Yellow Macular Degeneration | 37 (20%) | |
Degeneration | 30 (16%) | |
Deposits | 27 (14%) | |
Others | 34 (18%) | |
Macular Pigmentation (n = 241) | ||
No | 114 (48%) | |
Nummular | 62 (28%) | |
Bone Spicule | 37 (15%) | |
Other | 28 (9%) | |
Optic Disc (n = 72) | ||
Pale | 37 (51%) | |
Normal | 22 (31%) | |
Drusen | 7 (10%) | |
Others | 6 (8%) | |
Vessels (n = 96) | ||
Attenuated | 28 (29%) | |
Preserved para arteriole RPE | 22 (22%) | |
Para arteriolar RPE changes | 18 (19%) | |
Narrowed | 14 (15%) | |
Others | 14 (15%) | |
Peripheral pigmentation (n = 149) | ||
Pigmentation | 102 (68%) | |
Bone Spicule | 32 (21%) | |
Salt and pepper | 12 (8%) | |
Others | 3 (3%) | |
Peripheral condition (n = 47) | ||
Degenerative fundus | 30 (64%) | |
Loss of RPE | 4 (8%) | |
RPE atrophy | 3 (6%) | |
Others | 10 (22%) | |
Optical Coherent Tomography | ||
Macular Thickness (n = 79) | ||
CME | 32 (40%) | |
no CME | 16 (20%) | |
Macular Thickening | 12 (15%) | |
Others | 19 (25%) | |
Symptoms | ||
Cataract (n = 25) | ||
Yes N (%) | 17 (68%) | |
Night Blindness (n = 101) | ||
Yes N (%) | 98 (97%) | |
Nystagmus (n = 219) | ||
Yes N (%) | 177 (81%) | |
Keratoconus (n = 18) | ||
Yes N (%) | 17 (94%) | |
Strabismus (n = 14) | ||
Yes N (%) | 12 (86%) | |
Photophobia (n = 25) | ||
Yes N (%) | 23 (92%) | |
Poor Vision (n = 142) | ||
Yes N (%) | 138 (97%) | |
Constricted Visual Field (n = 14) | ||
Yes N (%) | 14 (100%) | |