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  • Molecular assay reagents intended to identify mutations in the paired box gene 6 (PAX6) gene, located at chromosome 11p13, which encodes for a transcriptional regulator involved in oculogenesis and other development processes; the gene is expressed in the eye and brain. Inherited mutations are present in patients with isolated aniridia. Mutations at this locus have been identified in patients with early onset of isolated aniridia, a disease characterized by complete or partial iris and foveal hypoplasia with reduced visual acuity and nystagmus progressing to cataract, glaucoma, and corneal opacification with vascularization.
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