Table 1 of Abouzeid, Mol Vis 2009; 15:2074-2083. Table 1 of Abouzeid, Mol Vis 2009; 15:2074-2083.
Table 1. Ocular and cerebral assessment of the ten patients with aniridia.
| Patient number | PAX6 Mutation | Brain MRI findings |
Age at examination | Visual Acuity RE/LE | Corneal pannus | Glaucoma |
Lens status |
||
|---|---|---|---|---|---|---|---|---|---|
| Exon | DNA | Protein | |||||||
| Family 1 | |||||||||
| II-7 | 7 | c.682-686delTGGGC* | Q57fx17 | NA | 46y | 0.1/0.15 | yes | yes, bilateral trabeculectomy | bilateral aphakia |
| III-1 | 7 | c.682-686delTGGGC* | Q57fx17 | absent pineal gland, anterior commissure severe hypoplasia | 19y | 0.05/0.05 | no | yes, bilateral trabeculectomy | bilateral anterior polar cataract with peripheral lens opacities, superior dislocation |
| III-2 | 7 | c.682-686delTGGGC* | Q57fx17 | NA | 17y | 0.05/0.05 | yes | no | pseudophakic |
| III-4 | 7 | c.682-686delTGGGC* | Q57fx17 | NA | 11y | 0.05/0.05 | mild | no | faint cortical opacities, superior dislocation |
| Family 2 | |||||||||
| III-5 | 8 | g.30586227delC* | R159fx47 | NA | 36y | 0.1/0.2 | yes | no | bilateral anterior polar cataract, faint cortical opacities |
| III-6 | 8 | g.30586227delC* | R159fx47 | NA | 44y | HM/LP | severe | yes, uncontrolled | superior dislocation |
| IV-1 | 8 | g.30586227delC* | R159fx47 | NA | 10y | 0.1/0.1 | no | no | bilateral aphakia |
| IV-3 | 8 | g.30586227delC* | R159fx47 | absent pineal gland, absent posterior commissure | 17y | 0.1/0.1 | yes | no | bilateral posterior polar cataract, superior dislocation |
| Family 3 | |||||||||
| I-1 | 9 | g.30579567C>T | R240X | absent pineal gland, optic chiasma atrophy, almost complete agenesis of the corpus callosum | 35y | 0.1/0.1 | mild | no | normal |
| II-1 | 9 | g.30579567C>T | R240X | NA | 3m | NA | no | no | normal |