Stimulus intensity | Property | Control (n = 19) | NYX mutation group (n = 11) | CACNA1F mutation group ( n = 4) |
---|---|---|---|---|
A rod b-wave response to a dim stimulus (SF −4 log units) was detected in 3 of the 11 subjects with NYX gene mutations and 3 of the 4 subjects with CACNA1F mutations. A response to the SF −2.6 log units was present in 9 of the 11 subjects with NYX gene mutations and 3 of the 4 subjects with CACNA1F mutations (Fig 3A); the mean b-wave amplitude did not differ markedly between genotypes (Fig 4). | ||||
SF-4 lux | b-wave amplitude (μV) | 78 (29) | 3 (5) | 11 (7) |
Response recorded in | 19 (100%) | 3 (27%) | 3 (75%) | |
SF-2.6 lux | b-wave amplitude (μV) | 267 (66) | 17 (13) | 49 (39) |
Response recorded in | 19 (100%) | 9 (82%) | 3 (75%) | |
SF | a-wave amplitude (μV) | −315 (60) | −307 (84) | −268 (43) |
Response subnormal in | 0 | 2 (18%) | 0 | |
b-wave amplitude (μV) | 472 (85) | 190 (57) | 204 (51) | |
Response subnormal in | 0 | 11 (100%) | 4 (100%) | |
Maximal OP amplitude (μV) | 62 (25) | 0 | 26 (8) | |
Response subnormal in | 0 | 11 (100%) | 0 | |
b-wave:a-wave ratio | 1.5 (0.2) | 0.6 (0.1) | 0.8 (0.1) |