Table 1 of
Sun, Mol Vis 2020; 26:588-602. Table 1 of
Sun, Mol Vis 2020; 26:588-602.
Table 1. The available clinical manifestations in patients with PPVs in the six genes.
| Gene | Congenital nystagmus | Photophobia | Impaired color vision | SR cone response by ERG |
|---|---|---|---|---|
| CNGA3 | 92.8% (180/194) | 97.8% (175/179) | 99.1% (216/218) | 98.1% (205/209) |
| CNGB3 | 93.8% (60/64) | 93.8% (60/64) | 96.1% (49/51) | 100% (76/76) |
| GNAT2 | 83.3% (15/18) | 93.8% (15/16) | 91.7% (11/12) | 100% (14/14) |
| PDE6C | 96.9% (31/32) | 94.1% (32/34) | 100% (27/27) | 100% (28/28) |
| ATF6 | 85.7% (18/21) | 85.7% (18/21) | 100% (19/19) | 100% (32/32) |
| PDE6H | 60% (3/5) | 40% (2/5) | 100% (5/5) | 100% (18/18) |