Table 2 of
Jiang, Mol Vis 2021; 27:50-60. Table 2 of
Jiang, Mol Vis 2021; 27:50-60.
Table 2. Clinical information of the probands and affected siblings with FZD5 mutations identified in this study (accession number NM_003468.3).
| Family ID | Nucleotide change | Effect | Gender | Age (year) | Initial | Visual acuity | Iris coloboma | Refraction | Fundus | Clinic group |
|---|---|---|---|---|---|---|---|---|---|---|
| at exam | symptom | OD;OS | OD;OS | (axial length) | OD;OS | |||||
| 9574-I:1 | c.1428delG | p.Ser477 Alafs*130 | M | 32 | No | LP;1.2 | No;No | NA | CC;ODH | Coloboma |
| 9574-II:1 | c.1428delG | p.Ser477 Alafs*130 | M | 1 | Strabismus | NA | No;Yes | NA | ICH;CC | Coloboma |
| 9574-II:2 | c.1428delG | p.Ser477 Alafs*130 | F | 3 | photophobia | NA | Yes;Yes | −1.25;+0.25 | CC;CC | Coloboma |
| 5485-I:1 | c.1403_1406dup ACCT | p.Tyr470 Profs*130 | M | 52 | No | 1.5;1.5 | No;No | (23.23;23.40) | ODH,ICH; ODH,ICH | Coloboma-variant |
| 5485-II:1 | c.1403_1406dup ACCT | p.Tyr470 Profs*130 | M | 26 | NYS | 0.08;0.05 | Yes;Yes | −13.25;-8.50 | CC;CC | coloboma |
| 5485-II:2 | c.1403_1406dup ACCT | p.Tyr470 Profs*130 | F | 11 | NYS | NA | Yes;Yes | −2.00;NA | CC;CC | coloboma |
| 12467-I:1 | c.1162G>A | p.Gly388Ser | M | 23 | Myopia | 1.0;1.0 | No;No | (26,23;26.28) | ODH,ICH; ODH,ICH | Coloboma-variant, HM |
| 12467-II:1 | c.1162G>A | p.Gly388Ser | F | 0.8 | No, screening | NA | No;No | NA | CC;CC | coloboma |
| 17413-I:2 | c.388C>A | p.Arg130Ser | F | 28 | No | 1.2;1.2 | No;No | NA | ODH;N | Coloboma-variant |
| 17413-II:1 | c.388C>A | p.Arg130Ser | F | 2.5 | NYS | NA | Yes;Yes | −3.75;-4.50 | CC;CC | coloboma |
| 18739-I:1 | c.1232A>G | p.Tyr411Cys | M | 36 | myopia | 1.0;1.2 | No;No | (25.60;25.20) | ODH, ICH;ICH | Coloboma-variant |
| 18739-II:1 | c.1232A>G | p.Tyr411Cys | M | 4.8 | Poor vision | 0.07;0.05 | No;No | +6.75;+7.00 | N;ODH | Coloboma-variant, PM |
| 13706-I:1 | c.794G>T | p.Arg265Leu | M | 32 | No | 1.0;0.9 | No;No | −3.00;-1.75 | ODH,ICH; ODH,ICH | Coloboma-variant |
| 13706-II:1 | c.794G>T | p.Arg265Leu | M | 5 | NYS | 0.05;0.15 | No;No | −7.00;-6.25 | TF,FH;TF,FH | HM |
| 9472-II:1 | c.1510A>T | p.Met504Leu | M | 48 | Poor vision | 0.1;FC | No;No | HM;HM | NA | HM# |
| 1267-II:1 | c.1510A>T | p.Met504Leu | F | 19 | Myopia | 1.0;1.0 | No;No | −8.50;-7.75 | NA | HM |
| 940-I:1 | c.350_356 delCGCCGCT | p.Ser117* | F | 20 | Myopia | 1.2;1.0 | No;No | −7.50;-6.50 | NA | HM |