Table 1.
Main demographic and genetic features of the study sample at baseline.
| ID | Age (years) | Gender | Date of injection | BCVA (logMAR) | RPE65-associated mutations | |||
|---|---|---|---|---|---|---|---|---|
| RE | LE | RE | LE | Allele 1 | Allele 2 | |||
| 1† | 9 | Male | 11-Dec-19 | 27-Nov-19 | 0.7 | 0.8 | c.938A > G (p.His313Arg) | c.1445A > T (p.Asp482Val) |
| 3 | 9 | Female | 7-Apr-21 | 24-Mar-21 | 0.62 | 0.7 | c.1102T > C (p.Tyr368His) | c.1229C > A (p.Ser410*) |
| 4 | 7 | Female | 7-Apr-21 | 24-Mar-21 | 0.6 | 0.6 | c.1102T > C (p.Tyr368His) | c.1229C > A (p.Ser410*) |
| 5 | 11 | Male | 31-Mar-21 | 14-Apr-21 | 0.74 | 0.7 | c.370C > T (p.Arg124*) | c.1543C > T (p.Arg515Trp) |
| 6 | 9 | Female | 14-Apr-21 | 31-Mar-21 | 0.62 | 0.8 | c.1543C > T (p.Arg515Trp) | c.1555G > T (p.Glu519*) |
| 11 | 16 | Female | 16-Jun-21 | 1-Jul-21 | 0.82 | 0.7 | c.65T > C (p.Leu22Pro) | c.10C > T (p.Gln4*) |
All nucleotide positions refer to the transcript NM_000329.
BCVA best-corrected visual acuity, RE right eye, LE left eye.
†Follow-up data related to patient 1 has been already reported in Testa et al. (2021).