Figure 1

Heterozygous PAX6 mutations cause a range of eye phenotypes. (a) Total absence of iris tissue with surgical aphakia (removal of natural lens) and remnant of opaque lens capsule (CTE mutation). (b) Almost complete absence of iris tissue obscured by peripheral corneal changes with opacification and neovasularisation, and unusual partly pigmented cortical lens opacities (PTC mutation). (c) Partial absence of iris tissue (missense mutation). (d) Severe aniridic keratopathy with total loss of transparency and neovasularisation of the cornea (PTC mutation). (e) Full iris demonstrating substantial area of abnormal iris architecture (missense mutation). Panels (c) and (e) are reproduced from Hingorani et al.⁷ Association for Research in Vision and Ophthalmology.