Guidelines
Domenica Taruscio
Istituto Superiore di Sanità
Viale Regina Elena 299
00161 - Roma (I)
Phone: 06 4990 4017
Fax: 06 4990 4370
taruscio@iss.it
Aniridia
Aniridia is a rare genetic bilateral panocular disorder affecting cornea, anterior chamber, iris, lens, retina, macula and optic nerve.
Two thirds of the cases are familiar, and one third is sporadic. It is caused by mutations of PAX6 genes. Mutations give rise to alteration in the corneal cytokeratin expression, cell adhesion and glycoconjugate proteins expression.
Aniridia may results in keratopaty and cataract; iris is deficient and optic nerve, macula e fovea are hypoplastic. Glaucoma may also occur during adolescence years.
It may be found in isolation or in association with extralocular disorders such as mental retardation, genitourinary abnormalities and the Wilm’s tumour.
The visual acuity may range from 1 to 2 /10.
