TABLE 1.
Patients information
| Participant number | Age (years) | Duration | Sex | Genotype pathogenic variants on ABCA4 gene | ACMG class | Gene typing | Operated eye | Baseline Visual Acuity ETDRS (letters)a | ERG group | AF category | Follow‐up time (month) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Operated eye | Follow eye | |||||||||||
| P1 | 21 | 5 | F | c.5882G > A (p.Gly1961Glu) | P (PS1, PM3, PM5, PP2, PP3, PP5) | B | OS | 39 | 39 | Group 1 | Category Ⅰ | 42 mo |
| c.1222C > T (p.Arg408Ter) | P (PVS1, PM2, PP5) | |||||||||||
| P2 | 19 | 8 | F | c.1819 G > A (p.Gly607Arg) | P (PS1, PM2, PM5, PP2, PP3, PP5) | C | OD | 40 | 42 | Group 1 | Category Ⅲ | 60 mo |
| c.2261T > C (p.Phe754Ser) | P (PS1, PM2, PM3, PP2, PP3, PP5) | |||||||||||
| P3 | 20 | 5 | F | c.6563T > C (p.Phe2188Ser) | P (PS1, PS4, PM2, PP1, PP2, PP3) | C | OD | 40 | 40 | Group 1 | Category Ⅱ | 60 mo |
| c.3749T > C (p.Leu1250Pro) | LP (PM1, PM2, PM3, PP1, PP3) | |||||||||||
| P4 | 22 | 10 | F | c.4948G > T (p.Glu1650Ter) | P (PVS1, PS1, PM2, PP2, PP3) | B | OS | 44 | 44 | Group 1 | Category Ⅱ | 60 mo |
| c.3482G > A (p.Arg1161His) | P (PS1, PM1, PM2, PM3, PP2, PP3) | |||||||||||
| P5 | 27 | 2 | M | c.4352 + 1G > A (p) | P (PVS1, PM2, PP3, PP5) | B | OD | 20 | 47 | Group 1 | Category Ⅲ | 12 mo |
| c.1748A > C (p.Lys583Thr) | LP (PM1, PM2, PM3, PP2, PP3) | |||||||||||
| P6 | 27 | 11 | M | c.6563T > C (p.Phe2188Ser) | P (PS1, PM1, PM2, PP2, PP3, PP5) | C | OS | 44 | 44 | Group 1 | Category Ⅰ | 42 mo |
| c.3476T > C (p.Leu1159Ser) | P (PS1, PM1, PM2, PP2, PP3) | |||||||||||
| P7 | 27 | 9 | F | c.6328T > C (p.Trp2110Arg) | LP (PM1, PM2, PM3, PP2, PP3) | C | OS | 23 | 35 | Group 1 | Category Ⅲ | 9 mo |
| c.2894A > G (p.Asn965Ser) | P (PS1, PM1, PM2, PM5, PP2, PP3) | |||||||||||
Abbreviations: ACMG, American College of Medical Genetics; AF, autofluorescence; ERG, electroretinography; LP, likely pathogenic; P, pathogenic.
a
Baseline Visual Acuity was recorded in ETDRS (letters).