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 |
Notes: M = male; F = female; NA = not available; YS = nystagmus; CC = coloboma; HM = high myopia; LP = light perception; FC = finger counting; ODH = optic disc hypoplasia; TF = tessellated fundus; ICH = inferior chorioretinal hypoplasia (inferior tessellated fundus); FH = foveal hypoplasia; PM = posterior microphthalmia; n = normal. # Both eyes had high myopia since childhood and had primary open-angle glaucoma and complicated cataracts at the time of sample collection at age 48 years.