Table 2 of
Dubey, Mol Vis 2015; 21:88-97. Table 2 of
Dubey, Mol Vis 2015; 21:88-97.
Table 2. Review of clinical findings of aniridia patients identified with PAX6 mutations.
| S.No. | Patient ID | Age/Sex | Best vision (RE & LE) | Nystagmus | Foveal hypoplasia | Cataract | Glaucoma | Keratopathy | Comments |
|---|---|---|---|---|---|---|---|---|---|
| 1 | AN-118–1 | 5 y/ M | 6/36 & 6/36 | + | + | - | - | - | Microcornea, skeletal anomaly (cross over toe, misshapen thumb) |
| 2 | AN-118–2 | 39 y/ M | 6/24 & 6/24 | + | + | + | + | - | Partial aniridia, cataract surgery |
| 3 | AN-99–1 | 1.5 y/ M | NA & NA | + | + | - | - | - | |
| 4 | AN-99–2 | 28 y/ M | 3/60 & 3/60 | + | + | + | + | + | |
| 5 | AN-87–1 | 8 y/ F | 4/60 & 3/60 | + | + | + | - | + | Partial aniridia, mild ptosis |
| 6 | AM-68–1 | 15 y/ F | CF & CF | + | + | + | + | + | |
| 7 | AN-82–1 | 5.5 y/ M | 6/60 & 6/60 | + | + | + | + | + | Lens subluxation |
| 8 | AN-107–1 | 6 y/ M | 5/60 & 5/60 | + | + | - | - | - | |
| 9 | AN-107–2 | 34 y/ F | CF & 1/60 | + | + | + | + | + | Cataract surgery, trabeculectomy |
| 10 | AN-120–1 | 1.5 y/ M | NA & NA | + | + | - | - | - | |
| 11 | AN-120–2 | 29 y/ M | PL & PL | + | + | + | + | - | Optic nerve anomaly |
| 12 | AN-105–1 | 8 y/ F | 6/60 & 5/60 | + | + | - | - | + | |
| 13 | AN-86–1 | 24 y/ F | 2/60 & PL | + | + | + | + | + | |
| 14 | AN-85–1 | 21 y/ M | 1/60 & CF | + | + | + | - | - | Lens subluxation |
| 15 | AN-92–1 | 21 y/ M | 6/36 & 5/60 | + | + | - | + | + | Microcornea |
| 16 | AN-91–1 | 37 y/ M | PL & PL | + | + | + | - | + | Partial aniridia |
| 17 | AN-91–2 | 5 y/ M | 6/24 & 6/24 | + | + | + | - | - | |
| 18 | AN-91–3 | 65 y/ F | NA & NA | + | NA | + | + | + | Trabeculectomy |
| 19 | AN-104–1 | 8 y/ M | 6/60 & 6/60 | + | + | + | - | - | Ptosis |