TABLE 1.
Clinical characteristics, including ABCA4 variations, of the 17 patients in the study.
| Patient | Diagnosis | Onset (y) | DD (y) | BCVA | ffERGb | ABCA4 Variation(s) | |
| OD/OS | Rods | Cones | |||||
| A1 | RP19 | 27 | 7 | 0.3/0.3 + | NA | NA | c.G2473A; c.G673A |
| B1 | CORD3 | 13 | 25 | 0.05/0.05 | ↓↓↓ | ↓↓↓ | c.A2894G; c.2063dupA |
| B2 | CORD3 | 20 | 13 | 0.04/0.05 | ↓↓ | ↓↓↓ | c.A2894G; c.1290dupC |
| B3 | CORD3 | 5 | 2 | 0.05/0.05 | ↓↓↓↓ | ↓↓↓↓ | c.2967dupT; c.T4748C |
| B4 | CORD3 | 17 | 10 | 0.06/0.05 | ↓ | ↓↓ | c.C3322T; c.G1648A |
| B5 | CORD3 | 12 | 6 | 0.05/0.02 | ↓ | ↓↓ | c.A2894G; c.G3106A; c.A983T |
| A2 | CORD3 | 9 | 1 | 0.15/0.15 | ↓↓ | ↓↓ | 1761–2A > G; c.C5512T |
| A3 | CORD3 | 5 | 17 | 0.06/0.02 | ↓↓↓↓ | ↓↓↓↓ | c.170_171insAA; c.C170G |
| A4 | CORD3 | 10 | 10 | 0.05/0.15 | NA | NA | c.1006delT; c.618_619insAAGGACATCGCCTGCAGC |
| A5 | COD | 13 | 4 | 0.15/0.12 | ↓ | ↓ | c.A2894G; c.A1034G |
| B6a | STGD1 | 12 | 5 | 0.05/0.05 | ↓↓ | ↓↓↓ | c.T1035G; c.A1034C |
| B7a | STGD1 | 12 | 0 | 0.05/0.05 | ↓ | ↓↓ | c.T1035G; c.A1034C |
| B8 | STGD1 | 11 | 1 | 0.05/0.07 | NA | NA | c.C6118T; c.101_106del |
| B9 | STGD1 | 6 | 10 | 0.04/0.05 | NA | NA | c.4203delC; c.C203T |
| B10 | STGD1 | 10 | 2 | 0.08/0.1 | Normal | ↓↓↓↓ | c.1561delG; c.1760G > A |
| B11 | STGD1 | 12 | 10 | 0.08/0.06 | NA | NA | c.C5593T; c.G5761T; c.G3106A; c.C5318T |
| A6 | STGD1 | 17 | 4 | 0.12/0.12 | Normal | ↓ | c.C4070T; c.C4070T |
y, years; DD, disease duration; OD, right eye; OS, left eye; ffERG, full-field electroretinogram; RP19, retinitis pigmentosa19; CORD3, cone–rod dystrophy 3; COD, cone dystrophy; STGD1, Stargardt disease 1; NA, not available; ↓↓↓↓, severely attenuated; ↓↓↓, moderate-severely attenuated; ↓↓, moderately/mild-moderately attenuated; ↓,mildly attenuated.
aPatients B4 and B5 are siblings.
bThe right eye.