Table 4 of
Rojanaporn, Mol Vis 2018; 24:778-788. Table 4 of
Rojanaporn, Mol Vis 2018; 24:778-788.
Table 4. Classification of RB in patients with positive and negative test results for germline RB1 mutations detected by direct sequencing in combination with MLPA.
| Detection | Mutation type | No. of eyes | Number of eyes in ICRB stages | |||||
|---|---|---|---|---|---|---|---|---|
| A | B | C | D | E | Ex | |||
| Positive | Nonsense | 9 | - | 1 | - | 2 | 4 | 2 |
| Splicing | 7 | - | - | 1 | 1 | 5 | - | |
| Frameshift | 4 | - | - | - | 2 | 2 | - | |
| Missense | 3 | - | 1 | - | - | 2 | - | |
| Promoter | 3 | - | - | - | - | 2 | 1 | |
| Gross deletion | 5 | - | - | - | - | 3 | 2 | |
| 31 | - | 2 (6.5%) | 1 (3.2%) | 5 (16.1%) | 18 (58.1%) | 5 (16.1%) | ||
| Negative | 20# | - | - | - | 8 (40.0%) | 11 (55.0%) | 1 (5.0%) | |
| Total | 51 | - | 2 (3.9%) | 1 (1.9%) | 13 (25.5%) | 29 (56.9%) | 6 (11.8%) | |