Table 2 of
Hou, Mol Vis 2012; 18:362-371. Table 2 of
Hou, Mol Vis 2012; 18:362-371.
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 |