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

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