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. 2020 Jul 16;9(2):40. doi: 10.1167/tvst.9.2.40

Table 1.

Patient Demographics

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