Table 4. Comparison of different characteristics between the c.1663-1205G>A deep intronic CNGB3 variant and the other CNGB3 mutations causing achromatopsia.
| Characteristics | Patients with CNGB3 c.1663-1205G>A (Mean±SD; Mean±95% CI) | Patients with other CNGB3 mutations (Mean±SD; Mean±95% CI) | P value |
|---|---|---|---|
| Age at diagnosis (years) |
7.35±7.93; 7.35±3.77 |
6.42±5.86; 6.42±2.71 |
p=0.70 |
| Age at first ERG (years) |
7.53±8.26; 7.53±4.18 |
7.58±7.99; 7.58±3.69 |
p=0.99 |
| Age at the last included ERG (years) |
12.69±9.69; 12.69±5.27 |
15.77±13.43; 15.77±6.80 |
p=0.51 |
| Age at last included visual acuity (years) |
18.75±12.21; 18.75±5.99 |
20.14±12.02; 20.14±6.30 |
p=0.76 |
| Current age (years) |
22.82±12.45; 22.82±5.92 |
27.22±17.03; 27.22±7.87 |
p=0.41 |
| Sex |
9 Males, 8 Females |
9 Males, 9 Females |
|
| Visual acuity‡ |
0.15±0.07; 0.15±0.034 |
0.092±0.053; 0.092±0.028 |
p=0.0215
|
| Mean Spherical equivalent§ |
−0.58±3.83; −0.58±1.88 |
+1.45±2.00; +1.45±1.01 |
p=0.088 |
| ffERG Cone- Rod response a-wave (μV)§ |
134.94±50.15; 134.94±34.75 |
121.94±37.30; 121.94±25.85 |
p=0.59 |
| ffERG Cone- Rod response b-wave (μV)§ |
258.81±51.52; 258.81±35.70 |
266.19±37.32; 266.19±25.86 |
p=0.76 |
| ffERG Rod response (b-wave; μV)§ | 221.36±50.85; 221.36±37.67 | 225.43±68.95; 225.43±51.08 | p=0.91 |