Table 5.
Variant Type | No. of RD Patients (%) |
No. of Bilateral RD Patients (%) | No. of RD Eyes (%) |
---|---|---|---|
Missense (n = 11) | 6 (55) | 3 (27) | 9 (41) |
Synonymous (n = 2) | 0 (0) | 0 (0) | 0 (0) |
Splicing (n = 7) | 5 (71) | 2 (29) | 7 (50) |
Nonsense (n = 8) | 3 (38) | 0 (0) | 3 (19) |
Frame shift (n = 6) | 3 (50) | 1 (17) | 4 (33) |
In-frame deletion (n = 2) | 1 (50) | 0 (0) | 1 (25) |
Intron (n = 1) | 0 (0) | 0 (0) | 0 (0) |