Table 1.
Axial | Confocal | ||||||
---|---|---|---|---|---|---|---|
Length | Number of | Images | |||||
Patient # | Study ID | Age | Eye | (mm) | Images | Available | Genetic Mutation |
1 | 13031 | 14 | OD | 22.71 | 16 | No | Deletion of exons 3–8 |
2 | 13035 | 22 | OS | 24.52 | 13 | Yes | c.315_318delTCAG |
3 | 13048 | 26 | OD | 23.81 | 9 | No | c.700A>T; p.Lys234Term (K234X) |
4 | 13106 | 31 | OD | 24.26 | 15 | No | IVS7-1 G>C c.940-1G>T |
5 | 13122 | 21 | OD | 24.46 | 14 | No | c.808C>T; p.Arg270Stop |
6 | 13125 | 32 | OS | 23.33 | 15 | Yes | c.1437dupA; p.Glu480ArgfsX12 |
7 | 13131 | 37 | OD | 24.99 | 12 | Yes | CHM - Met443del2aacAT hemizygous |
8 | 13159 | 43 | OS | 25.23 | 15 | Yes | Glu382Stop, GAA>TAA hemizygous |
9 | 13173 | 28 | OD | 23.98 | 14 | No | c.757 C>T; p.Arg253Stop(R253X) |
10 | 13183 | 37 | OD | 23.02 | 15 | No | c.745delT; p.Ser249LeufsX42 |
11 | 13190 | 22 | OD | 23.32 | 7 | No | deletion of exons 6, 7, and 8 |
12 | 13193 | 12 | OD | 24.33 | 12 | No | deletion involving the whole CHM gene |
13 | 13195 | 37 | OD | 23.41 | 16 | No | c.820-2A>G |
14 | 13220 | 8 | OD | 21.38 | 8 | No | hemizygous c.277A>T p.Lys93Ter(K93X) |
15 | 13226 | 39 | OD | 24.06 | 5 | Yes | c.940-2A>T |
16 | 13231 | 7 | OS | 22.29 | 8 | Yes | CHM Arg267Stop CGA>TGA hemizygous |
17 | 13232 | 32 | OD | 23.96 | 10 | No | CHM Gln380Stop CAA>TAA hemizygous |
Average ± SD | 26.35 ± 11.18 | 23.71 ± 0.98 | 12 ± 3.5 |