Table 4.
The distribution of variants according to exon/intron and pattern of retinal detachment.
| Gene | Exon/Intron | Nucleotide Change |
No. of Patients | No. of RD Patients |
No. of Bilateral RD Patients | No. of RD Eyes |
|---|---|---|---|---|---|---|
| COL2A1 | Ex9 | c.625C>T | 1 | 1 | 1 | |
| COL2A1 | Ex11 | c.737G>A | 1 | 1 | 1 | |
| COL2A1 | IVS13 | c.870+1G>A | 1 | 1 | 1 | |
| COL2A1 | Ex23 | c.1493G>A | 1 | |||
| COL2A1 | Ex26 | c.1693C>T | 5 | 4 | 3 | 7 |
| COL2A1 | Ex28 | c.1844del | 1 | |||
| COL2A1 | Ex31 | c.2003del | 3 | 3 | 1 | 4 |
| COL2A1 | Ex40 | c.2678dup | 1 | |||
| COL2A1 | IVS40 | c.2680-3C>G | 1 | |||
| COL2A1 | Ex42 | c.2862C>T | 2 | |||
| COL2A1 | Ex44 | c.3106C>T | 5 | 2 | 2 | |
| COL2A1 | IVS45 | c.3165+1G>A | 1 | |||
| COL2A1 | IVS47 | c.3327+1G>C | 2 | 2 | 2 | |
| COL2A1 | Ex48 | c.3394del | 1 | |||
| COL2A1 | Ex51 | c.3598G>C | 1 | |||
| COL2A1 | Ex51 | c.3867C>A | 2 | |||
| COL2A1 | Ex52 | c.4044G>C | 1 | 1 | 1 | |
| COL11A1 | IVS15 | c.1630-2delA | 2 | 2 | 2 | |
| COL11A1 | Ex29 | c.2308_2316del | 2 | 1 | 1 | |
| COL11A1 | Ex49 | c.3703G>A | 2 | |||
| COL11A1 | IVS51 | c.3816+2dup | 1 |