Table 1.
Demographic, clinical and genetic characteristics of patients homozygous for c.5882G > A p.(Gly1961Glu) and n/a = not available; predicted amino acid substitution for cis modifying variants = c.769-784C > T p.([=,Leu257Aspfs*3], c.2549A > G p.(Tyr850Cys), c.3758C > T p.(Thr1253Met), c.5242G > A p.(Gly1748Arg). *Disease duration (DD) were calculated by subtracting the age at examination from the patient’s self-reported age at which symptoms manifested
| Patient # | Gender | Age at examination | Age at onset | Disease Duration | BCVA OD | BCVA OS | ffERG Group | Allele 1 | Allele 2 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 69 | 43 | 18 | 20/200 | 20/400 | 1 | c.[769-784C > T;5882G > A] | c.5882G > A |
| 2 | F | 21 | n/a | 20/25 | 20/40 | 1 | c.[769-784C > T;5882G > A] | c.5882G > A | |
| 3 | M | 60 | 60 | 0* | 20/70 | 20/70 | n/a | c.[769-784C > T;5882G > A] | c.5882G > A |
| 4 | F | 62 | 48 | 15 | 20/200 | 20/150 | 1 | c.[769-784C > T;5882G > A] | c.5882G > A |
| 5 | M | 45 | 38 | 7 | 20/800 | 20/25 | n/a | c.[769-784C > T;5882G > A] | c.[769-784C > T; 5882G > A] |
| 6 | M | 42 | n/a | 20/25 | 20/30 | n/a | c.[769-784C > T; 5882G > A] | c.[3758C > T; 5882G > A] | |
| 7 | M | 45 | 35 | 10 | 20/50 | 20/25 | 1 | c.[2549A > G; 5882G > A] | c.[2549A > G; 5882G > A] |
| 8 | F | 48 | n/a | n/a | n/a | n/a | c.[5242G > A; 5882G > A] | c.5882G > A | |
| 9 | M | 32 | 21 | 11 | 20/80 | 20/100 | 1 | c.5882G > A | c.5882G > A |
| 10 | F | 51 | 51 | 0* | 20/30 | 20/30 | 1 | c.5882G > A | c.5882G > A |
| 11 | M | 45 | 14 | 31 | 20/125 | 20/125 | 1 | c.[769-784C > T;5882G > A] | c.4139C > T |
| 12 | M | 47 | 18 | 29 | 20/400 | 20/400 | 1 | c.[769-784C > T;5882G > A] | c.4139C > T |
| 13 | M | 63 | 10 | 53 | 20/300 | 20/150 | 1 | c.[769-784C > T;5882G > A] | c.4139C > T |
| 14 | M | 57 | 16 | 41 | 20/400 | 20/200 | 1 | c.[769-784C > T;5882G > A] | c.4139C > T |
| 15 | M | 34 | 31 | 3 | 20/40 | 20/50 | n/a | c.[769-784C > T;5882G > A] | c.4139C > T |
| 16 | n/a | n/a | n/a | n/a | n/a | n/a | c.[769-784C > T;5882G > A] | c.4139C > T | |
| 17 | F | 59 | 39 | 20 | 20/70 | 20/100 | 1 | c.[3758C > T;5882G > A] | c.4139C > T |
| 18 | F | 53 | 48 | 5 | 20/50 | 20/50 | 1 | c.[3758C > T;5882G > A] | c.4139C > T |
| 19 | M | 27 | n/a | n/a | n/a | n/a | c.[3758C > T;5882G > A] | c.4139C > T | |
| 20 | M | 60 | n/a | n/a | n/a | n/a | c.5882G > A | c.4139C > T | |
| 21 | M | 13 | 9 | 4 | 20/125 | 20/100 | 1 | c.5882G > A | c.4139C > T |
| 22 | F | 17 | 15 | 2 | 20/150 | 20/150 | 1 | c.5882G > A | c.4139C > T |
| 23 | F | 23 | 18 | 5 | 20/40 | 20/30 | n/a | c.5882G > A | c.4139C > T |
| 24 | F | 69 | 10 | 59 | 20/200 | 20/200 | 1 | c.5882G > A | c.4139C > T |
| 25 | F | 57 | 15 | 42 | 20/125 | 20/200 | 1 | c.5882G > A | c.4139C > T |
| 26 | F | 33 | 24 | 9 | 20/150 | 20/150 | 1 | c.5882G > A | c.4139C > T |
| 27 | M | 29 | 20 | 9 | 20/60 | 20/50 | n/a | c.5882G > A | c.4139C > T |