Table 1 Clinical data of individuals from the three families with ADOA included in this study.
From: Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy
Patient | Genotype | Gender | Age at inclusion (yr) | VA (OD/OS) | Average RNFL thickness(um) (OD/OS) | Average C/D Radio (OD/OS) | Vertical C/D Radio (OD/OS) | Cup Volume (mm2) (OD/OS) | Central Subfield Thickness(um) (OD/OS) | Macular Cube Volume(mm2) (OD/OS) | Macular Cube Average Thickness(um) (OD/OS) | Optic Disc Appearance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
F1-2 | WT | F | 40 | 1.0/1.0 | 97/98 | 0.58/0.60 | 0.54/0.59 | 0.208/0.241 | 262/255 | 10.4/10.3 | 290/285 | N |
F1-5 | c.1034 G > A | M | 8 | 0.6/0.6 | 94/94 | 0.47/0.37 | 0.37/0.43 | 0.037/0.031 | 207/206 | 9.6/9.6 | 266/266 | SP |
F1-6 | c.1034 G > A | M | 32 | 0.01/0.01 | 55/56 | 0.66/0.77 | 0.71/0.71 | 0.136/0.273 | 239/234 | 9.1/8.8 | 254/246 | MP |
F1-9 | c.1034 G > A | F | 65 | 0.02/0.02 | 58/54 | 0.81/0.80 | 0.76/0.74 | 0.46/0.359 | 251/250 | 8.7/8.6 | 245/242 | MP |
F2-1 | c.1305+2delGT | M | 16 | 0.1/0.16 | 70/65 | 0.76/0.76 | 0.74/0.71 | 0.421/0.411 | 238/241 | 9.1/8.9 | 255/250 | MP |
F2-3 | c.1305+2delGT | M | 46 | 0.1/0.1 | 70/68 | 0.73/0.75 | 0.66/0.71 | 0.310/0.313 | 243/240 | 8.3/8.8 | 229/244 | SP |
F2-4 | WT | M | 18 | 1.0/1.0 | 100/103 | 0.57/0.58 | 0.47/0.51 | 0.161/0.161 | 264/269 | 10.4/10.3 | 289/285 | N |
F2-5 | c.1305+2delGT | M | 49 | NMD | 79/82 | 0.67/0.66 | 0.60/0.66 | 0.265/0.180 | 216/211 | 9.0/8.8 | 250/245 | N |
F2-6 | c.1305+2delGT | F | 24 | 0.08/0.1 | 91/88 | 0.59/0.63 | 0.54/0.60 | 0.205/0.266 | 205/203 | 9/9 | 250/251 | SP |
F2-7 | c.1305+2delGT | M | 22 | 0.4/0.4 | 78/77 | 0.64/0.58 | 0.52/0.49 | 0.181/0.095 | 236/235 | 9.3/9.3 | 259/258 | N |
F3-1 | g.193310912_ 193380771del | M | 5 | 0.1/0.16 | 73/73 | 0.36/0.38 | 0.27/0.35 | 0.034/0.04 | 211/213 | 8.6/8.7 | 239/241 | MP |
F3-4 | g.193310912_ 193380771del | M | 32 | 0.4/0.4 | 78/86 | 0.54/0.52 | 0.46/0.46 | 0.127/0.098 | 220/218 | 9.3/9.2 | 257/256 | N |
