Table 2.
Individual PROM scores, visual acuity and chorioretinopathy stage by subject age.
| Age (y) | Sex | Genotype |
VFQ-25 Composite Score | PedEyeQ Child - Functional Vision Score | Visual Acuity (LogMAR) | Chorioretinopathy Stage | |
|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | ||||||
| 2 | M | c.1528G > C | c.1654G > C | NA | NA | NA | 1 |
| 3 | M | c.1528G > C | c.274_278del | NA | NA | NA | 3A |
| 3 | M | c.1528G > C | c.919-2A > G | NA | NA | NA | 2A |
| 4 | F | c.1528G > C | c.274_278delTCATC | NA | NA | NA | 2A |
| 7 | F | c.1528G > C | c.1916-1919dup | NA | 94.99 | 0.00 | 2A |
| 7 | M | c.1025 T > C | c.1493A > G | NA | 100.00 | −0.10 | 2A |
| 7 | M | c.1528G > C | c.180 + 3A > G | NA | 100.00 | −0.10 | 1 |
| 7 | M | c.1528G > C | c.2225_2228dup | NA | 100.00 | 0.20 | 3A |
| 9 | M | c.1528G > C | c.1036C > T | NA | 64.98 | 0.40 | 3A |
| 9 | M | c.1528G > C | c.180 + 3A > G | NA | 94.99 | −0.10 | 1 |
| 10 | F | c.1528G > C | c.1654G > C | NA | 64.98 | 0.00 | 1 |
| 11 | M | c.1528G > C | c.180 + 3A > G | NA | 94.99 | −0.22 | 1 |
| 11 | F | c.1528G > C | c.1085 + 5G > C | NA | 94.99 | 0.00 | 2A |
| 11 | F | c.1528G > C | c.180 + 3A > G | NA | 100.00 | −0.22 | 1 |
| 12 | F | c.1528G > C | EX11del | NA | 79.98 | 0.00 | 2B |
| 12 | M | c.1528G > C | c.1528G > C | NA | 49.98 | 0.10 | 2B |
| 13 | F | c.1528G > C | c.315-1G > A | NA | 100.00 | −0.10 | 2A |
| 13 | M | c.1528G > C | c.274_278del | NA | 95.00 | −0.10 | 2A |
| 15 | F | c.1528G > C | c.703C > T | NA | 100.00 | −0.10 | 1 |
| 15 | M | c.1528G > C | c.1152dup | NA | 84.99 | 0.00 | 2A |
| 16 | F | c.1528G > C | c.467G > A | NA | 9.99 | 0.50 | 4 |
| 16 | M | c.1528G > C | c.2000 + 1G > T | NA | 95.00 | −0.22 | 2A |
| 17 | M | c.1528G > C | c.703C > T | NA | 100.00 | −0.10 | 1 |
| 17 | M | c.1528G > C | c.1528G > C | NA | 100.00 | 0.00 | 2B |
| 17 | M | c.1528G > C | 1 bp deletion A2059 | NA | 34.99 | 1.00 | 3B |
| 17 | F | c.1528G > C | c.1620 + 2_1620 + 6del | NA | 15.03 | 0.80 | 4 |
| 18 | F | c.1528G > C | c.1678C > T | 74.89 | NA | 0.20 | 3A |
| 18 | M | c.1528G > C | c.1528G > C | 93.83 | NA | 0.10 | 2B |
| 18 | F | c.1528G > C | c.1528G > C | 84.55 | NA | 0.20 | 3B |
| 18 | M | c.1528G > C | c.1528G > C | 98.67 | NA | −0.10 | 3A |
| 21 | M | c.1528G > C | c.1528G > C | 45.04 | NA | 0.70 | 4 |
| 24 | F | c.1528G > C | c.1528G > C | 56.50 | NA | 0.00 | 3B |
| 24 | F | c.1528G > C | c.1528G > C | 30.25 | NA | 0.20 | 4 |
| 26 | F | c.901G > A* | c.1390-23A > G* | 89.77 | NA | −0.10 | 1 |
| 27 | M | c.1528G > C | c.1528G > C | 45.67 | NA | 0.30 | 4 |
| 28 | F | c.1528G > C | c.1132C > T | 58.98 | NA | 0.10 | 3B |
| 29 | F | c.1528G > C | c.479_482delinsAATA | 63.98 | NA | 0.20 | 4 |
| 30 | M | c.1528G > C | EX2_4del | 33.45 | NA | 1.60 | 4 |
| 31 | F | c.901G > A* | c.1390-23A > G* | 93.37 | NA | −0.10 | 1 |
| 36 | F | c.1528G > C | c.1528G > C | 68.14 | NA | 0.30 | 4 |
M = Male; F = Female; y = years; NA = Not applicable. All genetic variants were identified in theTFPα gene HADHA transcript NM_000182.5 except those marked with an asterisk (*) that were identified in theTFPβ gene HADHB transcript NM_000183.2.