Table 2. Clinical phenotypes and genotypes of the probands of 15 families with TGFBI-linked corneal dystrophies.
| Family | Phenotype | Mutations | Age (proband) at examination (years) | VA (proband) at examination |
|---|---|---|---|---|
| NTUH 1 |
Numerous granules and some stellate opacities |
R124H |
26 |
OD: 0.7; OS: 0.7 |
| NTUH 2 |
Some granular opacities |
R124H |
29 |
OD: 1.0; OS: 0.6 (RD s/p SB) |
| NTUH 16 |
Numerous granules and some stellate opacities |
R124H |
60 |
OD: 0.05; OS: 0.2 with cataract (OU) |
| NTUH 22 |
Numerous granules and some stellate opacities |
R124H |
30 |
OD: 1.0; OS: 1.0 |
| NTUH 25 |
Numerous granules and some stellate opacities |
R124H |
68 |
OD: 0.5; OS: 0.5 with cataract (OU) |
| NTUH 6 |
Some granules with slim lines |
R555W |
52 |
OD: 0.5; OS: 0.6 |
| NTUH 3 |
Bread crumb opacities |
R555W |
39 |
OD: 0.5; OS: 0.6 |
| NTUH 4 |
Bread crumb opacities |
R555W |
24 |
OD: 0.4; OS: 0.3 |
| NTUH 5 |
Bread crumb opacities |
R555W |
45 |
OD: 0.5; OS: 0.5 |
| NTUH 7 |
Reticular superficial opacities |
R555Q |
21 |
OD: 0.6; OS: 0.6 |
| NTUH 8 |
Reticular superficial opacities |
R555Q |
57 |
OD: 0.1; OS: 0.1 with cataract (OU) |
| NTUH 18 |
Reticular superficial opacities |
R555Q |
68 |
OD: 0.05; OS: 0.05 with cataract (OU) |
| NTUH 9 |
Flake-dot opacities with lattice lines |
R124C |
36 |
OD: 0.3; OS: 0.4 |
| NTUH 15 |
Superficially diffuse haze with some fine lines |
R124C |
32 |
OD: 0.4; OS: 0.4 |
| NTUH 11 | Polymorphic dots with lattice lines | A546D | 39 | OD: 0.4; OS: 0.2 |
OD: right eye, OS: left eye, OU: both eyes. RD s/p SB: retinal detachment after surgery with scleral buckle.