Table 2.
Comparison of Age-Matched Sibling Pairs' Best Corrected Visual Acuity and Atrophy Area
| Family No. | Genotype Class* | Patient No. | Sex | Age at Symptom Onset (years) | Age at Examination (years) | Duration of Disease at Match (years) | Age-Matched Measurements | Inter-sibling Differences | Foveal Sparing | ||||||||||
| BCVA | DAF Area mm2 | DAF Radius, mm | BCVA | DAF Area, mm2 | DAF Radius, mm | ||||||||||||||
| Right | Left | Right | Left | Right | Left | Right | Left | Right | Left | Right | Left | ||||||||
| F1 | B | P1 | M | 17 | 29 | 12 | 6 | 17 | 9.6 | 11.7 | 1.75 | 1.93 | 27 | 20 | 1.1 | 4.4 | 0.10 | 0.41 | No |
| P2 | M | 16 | 29 | 13 | 33 | 37 | 8.5 | 7.3 | 1.64 | 1.52 | No | ||||||||
| F2 | B | P3 | F | 15 | 30 | 15 | 35 | 35 | 0.6 | 0.8 | 0.44 | 0.50 | 6 | 7 | 0.8 | 1.5 | 0.23 | 0.35 | No |
| P4 | M | 19 | 30 | 11 | 41 | 42 | 1.4 | 2.3 | 0.67 | 0.86 | No | ||||||||
| F3 | A | P5 | F | 10 | 39 | 29 | 15 | 38 | 64.9 | 64.6 | 4.55 | 4.53 | 0 | 18 | 12.7 | 8.7 | 0.47 | 0.32 | No |
| P6 | M | 7 | 38 | 31 | 15 | 20 | 52.2 | 55.9 | 4.08 | 4.22 | No | ||||||||
| F4 | B | P7 | M | 7 | 58 | 51 | 9 | 8 | 74.4 | 73.4 | 4.87 | 4.83 | 6 | 6 | 23.0 | 29.0 | 0.82 | 1.07 | No |
| P8 | M | 6 | 58 | 52 | 3 | 2 | 51.4 | 44.4 | 4.04 | 3.76 | No | ||||||||
| F5 | B | P9 | F | 36 | 57 | 21 | 82 | 81 | 14.7 | 2.3 | 2.16 | 0.86 | 77 | 27 | 12.3 | 1.9 | 1.29 | 0.50 | No |
| P10 | M | 51 | 57 | 6 | 5 | 54 | 2.4 | 0.4 | 0.87 | 0.36 | No | ||||||||
| F6 | A | P11 | M | 9 | 12 | 3 | 15 | 17 | 0.2 | 0.4 | 0.25 | 0.36 | 55 | 58 | 0.2 | 0.4 | 0.25 | 0.36 | No |
| P12 | M | 11 | 12 | 1 | 70 | 75 | 0.0 | 0.0 | 0.00 | 0.00 | No | ||||||||
| F7 | A | P13 | M | 7 | 18 | 11 | 31 | 35 | 4.5 | 3.5 | 1.20 | 1.06 | 4 | 0 | 3.1 | 3.9 | 0.36 | 0.48 | No |
| P14 | F | 6 | 18 | 12 | 35 | 35 | 7.6 | 7.4 | 1.56 | 1.53 | No | ||||||||
| F8 | C | P15 | F | 18 | 23 | 5 | 68 | 69 | 0.0 | 0.0 | 0.00 | 0.00 | 14 | 14 | 0.0 | 0.0 | 0.00 | 0.00 | No |
| P16 | F | 22 | 23 | 1 | 82 | 83 | 0.0 | 0.0 | 0.00 | 0.00 | No | ||||||||
| F10 | B | P19 | M | 22 | 75 | 53 | −30 | −30 | 31.0 | 35.5 | 3.14 | 3.36 | 0 | 0 | 24.6 | 9.7 | 1.07 | 0.43 | No |
| P20 | F | 8 | 75 | 67 | −30 | −30 | 55.6 | 45.2 | 4.21 | 3.79 | No | ||||||||
| F11 | B | P21 | M | 13 | 40 | 27 | 20 | 30 | 24.2 | 20.7 | 2.78 | 2.57 | 7 | 4 | 3.3 | 5.9 | 0.20 | 0.40 | No |
| P22 | M | 12 | 41 | 29 | 27 | 26 | 20.9 | 14.8 | 2.58 | 2.17 | No | ||||||||
| F13 | C | P26 | F | 15 | 38 | 23 | 40 | 53 | 0.0 | 0.0 | 0.00 | 0.00 | 2 | 14 | 2.9 | 2.5 | 0.96 | 0.89 | No |
| P27 | F | 15 | 37 | 22 | 38 | 39 | 2.9 | 2.5 | 0.96 | 0.89 | No | ||||||||
| F14 | A | P28 | F | 8 | 27 | 19 | 5 | 10 | 6.6 | 6.9 | 1.45 | 1.48 | 1 | 5 | 1.4 | 3.1 | 0.15 | 0.30 | No |
| P29 | M | 9 | 26 | 17 | 4 | 5 | 8.0 | 10.0 | 1.60 | 1.78 | No | ||||||||
| F16 | B | P32 | F | NA | 30 | NA | 85 | 81 | 0.3 | 0.2 | 0.31 | 0.25 | 4 | 13 | 1.1 | 0.2 | 0.36 | 0.25 | No |
| P33 | F | 29 | 30 | 1 | 89 | 94 | 1.4 | 0.0 | 0.67 | 0.00 | No | ||||||||
*
Definition: Class A, severe biallelic mutations. Class B, an allele of intermediate severity in trans with a severe or intermediate allele. Class C, a mild allele in trans with a severe allele.
DAF, dark autofluorescence; NA, not applicable as patient remained asymptomatic at latest follow-up.