Table 2. The clinical features of aniridia patients in the Chinese family.
| Patient | I:2 | II:2 | II:4 | III:1 | III:2 | III:4 |
|---|---|---|---|---|---|---|
| Gender |
F |
F |
M |
M |
F |
F |
| Age (years) |
63 |
43 |
38 |
20 |
11 |
11 |
| BCVA R/L |
LP/HM |
0.25/HM |
0.06/0.02 |
LP/LP |
0.3/0.2 |
0.02/0.06 |
| Nystagmus |
NO |
YES |
YES |
YES |
YES |
YES |
| Ptosis |
YES |
YES |
NO |
NO |
NO |
NO |
| Strabismus |
Exotropia |
Exotropia |
NO |
Exotropia |
NO |
Exotropia |
| Glaucoma |
NA |
YES |
YES |
YES |
NO |
NO |
| Corneal pannus |
YES |
NO |
NO |
YES |
NO |
NO |
| CCT R/L (μm) |
NA |
617/628 |
622/628 |
NA |
671/682 |
634/658 |
| Corneal curvature (D) |
Min:37.5 Max:38.4 |
Min:35.2 Max:42.5 |
Min:39.9 Max:41.5 |
NA |
Min:38.0 Max:38.4 |
Min:40.2 Max:43.0 |
| CV |
YES |
NO |
NO |
YES |
NO |
NO |
| ECD (/mm3) |
NA |
1798 |
3333 |
NA |
NA |
NA |
| ACD R (mm) |
2.37 |
3.25 |
2.07 |
NA |
NA |
2.14 |
| Lens |
Total Cataract |
IOL |
Nuclear cataracts |
Aphakia |
PSC |
PSC |
| EL |
NA |
NA |
YES |
NA |
NO |
NO |
| Iris |
Complete aniridia |
Complete aniridia |
Complete aniridia |
Complete aniridia |
Complete aniridia |
Complete aniridia |
| C/D R/L |
NA |
0.8/0.4 |
NA |
0.9/0.9 |
0.3/0.3 |
0.5/0.5 |
| MT R/L (μm) |
NA |
216 |
NA |
NA |
NA |
NA |
| AL R/L (mm) |
25.0/26.6 |
NA |
NA |
25.4/25.0 |
21.4/21.2 |
19.7/19.7 |
| CNS defect | NO | NO | NO | NO | NO | NO |
Abbreviations: F, Female; M, Male; BCVA, Best-Correct Visual Acuity; R, Right eye; L, Left eye; LP, Light Perception; HM, Hand Motion; NA, Not Available; CCT, Central Corneal Thickness; CV, Corneal Vascularization; ECD, Endothelial Cell Density; ACD, Anterior Chamber Depth; IOL, Intraocular Lens; PSC, Posterior Subcapsular Cataracts; EL, Ectopia Lentis; C/D, Cup-to-disk Ratio; MT, Macular Thickness; AL, Axial Length; CNS, Central Nervous System.