Table 2 of
Meng, Mol Vis 2019; 25:654-662. Table 2 of
Meng, Mol Vis 2019; 25:654-662.
Table 2. Clinical features of common CYP4V2 mutation types in 85 probands with Bietti’s Crystalline Dystrophy.
| Types | Number of patients | Visual acuity (mean) | Age at consultation (years) | Age at onset (years) | Course of the disease (years) |
|---|---|---|---|---|---|
| Hom.c.802-8_810del17insGC | 16 | 0.42±0.54 | 38.1±12.8 | 27.0±10.0 | 10.75±6.07 |
| c.802-8_810del17insGC & c.992A>C | 7 | 0.27±0.23 | 42.2±7.62 | 32.6±9.45 | 9.60±3.26 |
| c.802-8_810del17insGC & c.1091-2A>G | 15 | 0.32±0.24 | 40.53±10.99 | 30.47±11.73 | 10.0±8.95 |
| Hom . c.992A>C | 8 | 0.25±0.25 | 45.0±7.75 | 32.12±6.10 | 12.88±5.99 |
| Hom. c.1091-2A>G | 5 | 0.22±0.12 | 46.6±6.43 | 29.6±10.52 | 17.0±14.07 |