Congenital aniridia and the ocular surface

R Ihnatko, U Eden, P Fagerholm, N Lagali - The ocular surface, 2016 - Elsevier
Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial
gene for proper development of the eye. Aniridia affects a range of eye structures, including
the cornea, iris, anterior chamber angle, lens, and fovea. The ocular surface, in particular,
can be severely affected by a progressive pathology termed aniridia-associated keratopathy
(AAK), markedly contributing to impaired vision. The purpose of this review is to provide an
update of the current knowledge of the genetic, clinical, micro-morphological, and molecular …