title: Congenital Aniridia and the Ocular Surface.
abstract: 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 aspects of AAK. We draw upon material presented in the literature and from our own observations in large aniridia cohorts. We summarize signs and symptoms of AAK, describe current options for management, and discuss the latest research findings that may lead to better diagnosis and new treatment or prevention strategies for this debilitating ocular surface condition.
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.
authors.forename: Robert
authors.initials: R
authors.lastname: Ihnatko
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.
authors.forename: Ulla
authors.initials: U
authors.lastname: Eden
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.
authors.forename: Per
authors.initials: P
authors.lastname: Fagerholm
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden. Electronic address: neil.lagali@liu.se.
authors.forename: Neil
authors.initials: N
authors.lastname: Lagali
mesh_terms: D015783:Aniridia; D000869:Anterior Eye Segment; D003315:Cornea; D006801:Humans; D014792:Visual Acuity
keywords: Pax6 gene; aniridia; aniridia-associated keratopathy; congenital aniridia; gene mutations; haplo-insufficiency; iris