Congenital Aniridia and the Ocular Surface
2016 (English)In: OCULAR SURFACE, ISSN 1542-0124, Vol. 14, no 2, 196-206 p.Article in journal (Refereed) PublishedText
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.
Place, publisher, year, edition, pages
ELSEVIER SCIENCE BV , 2016. Vol. 14, no 2, 196-206 p.
aniridia; aniridia-associated keratopathy; congenital aniridia; gene mutations; haplo-insufficiency; iris; Pax6 gene
IdentifiersURN: urn:nbn:se:liu:diva-128758DOI: 10.1016/j.jtos.2015.10.003ISI: 000375222400012OAI: oai:DiVA.org:liu-128758DiVA: diva2:931920
Funding Agencies|Ogonfonden; Swedish Research Council [2012-2472]; Country of Ostergotland; Kronprinsessan Margaretas Arbetsnamnd2016-05-312016-05-302016-06-22