Table 5.
Summary of the Types of Mutations and Retinal Phenotypes for the 26 Participants Who Were Imaged With OCT
| Mutation | ||||||
|---|---|---|---|---|---|---|
| ID | FH Grade | Central Retinal Thickness (µm) | Central Outer Retinal Thickness (µm) | Sex | Type | Remarks |
| 5124 | 0 | 239.27 | 220.22 | M | Not available | |
| 5139 | 0 | 232.48 | 213.88 | F | Deletion ELP4, DCD1 | Deletes retina enhancer |
| 5134 | 1 | 296.73 | 210.63 | F | Large deletion PAX6, ELP4 | Deletes retina enhancer |
| 5132 | 1 | 292.45 | 190.04 | F | Deletion ELP4, DCD1 | Deletes retina enhancer |
| 5199 | 2 | 338.12 | 194.98 | M | Splicing error PAX6 5′ UTR | |
| 5120 | 2 | 347.91 | 179.77 | M | Splicing error PAX6 5′ UTR | |
| 5123 | 2 | 323.30 | 176.84 | M | Splicing error PAX6 5′ UTR | |
| 5116 | 2 | 357.77 | 161.44 | M | Splicing error PAX6 5′ UTR | |
| 5154 | 2 | 300.10 | 157.69 | F | Large deletion PAX6, ELP4, DCD1 | Deletes retina enhancer |
| 5114 | 3 | 312.42 | 180.67 | F | Splicing error PAX6 5′ UTR | |
| 5125 | 3 | 343.52 | 171.49 | M | Splicing error PAX6 5′ UTR | |
| 5144 | 3 | 333.82 | 156.79 | F | PTC-PAX6 coding region | |
| 5135 | 3 | 342.37 | 152.71 | F | Splicing error PAX6 5′ UTR | |
| 5137 | 3 | 318.16 | 143.99 | F | PTC-PAX6 coding region | |
| 5147 | 3 | 307.81 | 142.82 | F | No mutation found | |
| 5140 | 4 | 316.55 | 148.83 | F | CTE-PAX6 coding region | |
| 5138 | 4 | 336.59 | 146.20 | F | PTC-PAX6 coding region | |
| 5113 | 4 | 325.71 | 140.84 | F | PTC-PAX6 coding region | |
| 5126 | 4 | 310.08 | 137.64 | M | PTC-PAX6 coding region | |
| 5131 | 4 | 340.81 | 135.18 | F | PTC-PAX6 coding region | |
| 5148 | 4 | 302.02 | 130.50 | F | Splicing error PAX6 5′ UTR | |
| 5141 | 4 | 284.63 | 124.15 | M | PTC-PAX6 coding region | |
| 5119 | 4 | 293.74 | 117.36 | F | Not available | |
| 5149 | 4 | 316.80 | 114.61 | F | CTE-PAX6 coding region | |
| 5117 | 4 | 282.13 | 109.26 | F | Large deletion PAX6 | Intact retina enhancer |
| 5127 | 4 | 305.73 | 105.72 | F | PTC-PAX6 coding region | |
The participants are ordered according to foveal hypoplasia grade corresponding to the OCT images in Figure 3.