Table 4.
Frequency of associated findings within the genetic subgroups and in the general cohort. N = number of patients; - = non-existent or missing data. * = Data for color vision was not documented in 24 patients, thereof 14 patients with BCVA of 0 (Snellen). If these patients were added, 88 patients (84%) were affected by color vision disturbances.
| Gene | N | Nystagmus | Strabismus | Oculodigital Sign | Cataract | Keratoconus | Optic Nerve Head Drusen | Night Blindness | Photophobia | Color Vision Disturbance |
|---|---|---|---|---|---|---|---|---|---|---|
| N | ||||||||||
| AIPL1 | 6 | 6 | 2 | - | 2 | 1 | - | 2 | 4 | 4 |
| CABP4 | 2 | 1 | 2 | - | - | - | - | 1 | 1 | 2 |
| CEP290 | 22 | 17 | 9 | 4 | 11 | 4 | 3 | 13 | 13 | 12 |
| CRB1 | 22 | 11 | 9 | - | 10 | 1 | 3 | 18 | 15 | 18 |
| CRX | 1 | - | - | - | - | - | - | - | - | - |
| IFT140 | 1 | - | - | - | 1 | - | - | 1 | 1 | - |
| IQCB1 | 5 | 3 | 3 | - | 2 | - | - | 4 | 2 | 4 |
| LCA5 | 1 | - | - | - | - | - | - | 1 | 1 | - |
| LRAT | 3 | 3 | 1 | - | 1 | - | - | 1 | - | 1 |
| NMNAT1 | 2 | 1 | - | - | - | - | - | - | 1 | 1 |
| RD3 | 1 | 1 | 1 | - | - | - | - | - | 1 | 1 |
| RDH12 | 14 | 3 | 10 | - | 9 | - | - | 10 | 7 | 11 |
| RPE65 | 15 | 12 | 6 | 1 | 7 | - | - | 12 | 9 | 11 |
| RPGRIP1 | 2 | 2 | - | - | - | - | - | 1 | 2 | 2 |
| SPATA7 | 2 | 1 | 1 | - | 2 | - | - | 2 | 1 | 2 |
| TULP1 | 6 | 1 | - | - | 1 | - | - | 6 | 3 | 5 |
|
General
(N; frequency) |
105 |
62
59% |
47
44% |
5
5% |
54
51% |
6
6% |
6
6% |
72
68% |
63
60% |
74 *
70% * |