Table 1 of
Souzeau, Mol Vis 2018; 24:261-273. Table 1 of
Souzeau, Mol Vis 2018; 24:261-273.
Table 1. Phenotypic features of the patients with aniridia.
| ID/ inheri-tance | Origin | Age (years) / Sex | Visual acuity (logMAR) (RE/LE) | Retinal features | Ocular motility | Kerato-pathy | Cataract | Lens subluxation | Glaucoma | CCT (μm) (RE/LE) | Refraction (RE/LE) | Surgery | Associated conditions |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1a/F | Australia | 24/F | 1.1:CF | FH | nystagmus | + | + (PSC, C, NS) | - | OHT | na | +3.0/+3.0 | Nil | Type 1 diabetes |
| 1b/F | Australia | 26/M | CF:PL | FH | nystagmus | + | + (C) | + | + (severe) | 550/526 | +1.5/+1.5 | CAT (BE) VIT (BE) TRAB (BE) TUBE (BE) | Retinal detachment, stroke |
| 1c/F | Australia | 52/F | CF:CF | FH | nystagmus, esotropia | + | + (Fleck) | - | - | na | +5.0/+5.0 | CG (RE) | |
| 2/F | Australia | 13/M | 0.8:0.9 | FH | nystagmus, esotropia | + | - | + | - | 628/610 | +5.0/+5.0 | Nil | |
| 3a/F | Australia | 47/M | NPL:CF | FH | nystagmus | + | + | - | + | na/770 | na | CAT (BE) Buckle (LE) | Retinal detachment |
| 3b/F | Australia | 17/F | better than 1.00 | FH | nystagmus | - | + (dot) | - | - | +3.5/+3.5 | Nil | ||
| 4/S | Australia | 31/F | 0.6:0.5 | FH | intermittent esotropia | + (mild) | + (PSC, C) | - | - | 628/654 | −2.1/-1.9 | Nil | |
| 5/S | Australia | 54/M | 0.3:0.2 | FH | normal | - | + (PSC) | - | - | na | +7.1/+7.3 | CAT (BE) | |
| 6/S | Australia | 20/M | 0.5:0.9 | FH | nystagmus | - | + (PSC) | - | + | 660/716 | na | CAT (BE) TRAB (LE) TUBE (LE) | |
| 7/S | Australia | 34/M | 1.0: 1.1 | FH | nystagmus | + | + (PSC, C) | - | + | na | +3.5/+4.5 | CAT (RE) | Intellectual disability, obesity, IgA nephropathy |
| 8/S | Australia | 57/F | 1.3:HM | na | nystagmus | + | + | - | + (severe) | na | na | TRAB (BE) CAT (BE) | Vitreous hemorrhage from diabetic proliferative retinopathy |
| 9/S | Australia | 10/F | 1.2:CF | - | nystagmus | + | + (PSC) | - | + | 601/590 | +1.5/+6.4 | TUBE (BE) CAT (LE) | |
| 10/F | Australia | 33/F | NPL:0.9 | FH | nystagmus | + | + (C) | + | + (severe) | 537/589 | na | CAT (BE) | |
| 11/S | New Caledonia | 17/M | 1.0:1.0 | - | nystagmus, esotropia | + | - | - | - | 697/689 | −0.5/-0.8 | Nil | |
| 12a/F | Cambodia | 51/M | HM:CF | CA | nystagmus | + (mild) | + (dense C) | - | - | 779/761 | −8.0/-8.0 | Nil | |
| 12b/F | Cambodia | 24/F | CF:CF | FH | nystagmus | - | + (PSC, C) | - | - | 584/607 | −12.0/-12.0 | Nil | |
| 12c/F | Cambodia | 21/F | 1.3:1.3 | CA | nystagmus | - | - | + | - | 653/657 | −13.0/-13.0 | Nil | |
| 12d/F | Cambodia | 14/F | na | FH | nystagmus | - | - | - | - | −2.5/-2.5 | Nil | ||
| 12e/F | Cambodia | 12/M | CF:CF | FH | nystagmus | - | + (PSC, C) | - | - | 602/617 | −3.5/-3.5 | Nil | |
| 13/F | Cambodia | 15/F | 0.5:0.4 | na | na | - | - | + | + | na | na | Nil | |
| 14/F | Sri Lanka | 21/M | HM:NPL | na | na | - | + | + | - | na | na | CAT (LE) | Phthisical eye following surgery |
| 15/F | Sri Lanka | 17/M | 0.8:0.8 | na | na | - | + | - | + | na | −1.8/-2.0 | Nil | |
| 16/S | Sri Lanka | 21/F | PL:NPL | na | na | - | - | + | + | na | +10.0/-1.0 | Nil | Refraction RE secondary to lens subluxation |
| 17/F | Bhutan | 14/M | 0.9:0.8 | na | na | - | + | + | + | na | +8.0/+10.0 | Nil | Refraction BE secondary to lens subluxation |
| 18/F | Bhutan | 9/F | 1.0:1.1 | na | na | - | - | + | - | na | +11.0/+11.0 | Nil | Refraction BE secondary to lens subluxation |