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Congenital Aniridia and the Ocular Surface
Linköping University, Department of Clinical and Experimental Medicine, Division of Microbiology and Molecular Medicine. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Anaesthetics, Operations and Specialty Surgery Center, Department of Ophthalmology in Linköping.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Anaesthetics, Operations and Specialty Surgery Center, Department of Ophthalmology in Linköping.
2016 (English)In: OCULAR SURFACE, ISSN 1542-0124, Vol. 14, no 2, 196-206 p.Article in journal (Refereed) PublishedText
Abstract [en]

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.
Keyword [en]
aniridia; aniridia-associated keratopathy; congenital aniridia; gene mutations; haplo-insufficiency; iris; Pax6 gene
National Category
Psychiatry
Identifiers
URN: urn:nbn:se:liu:diva-128758DOI: 10.1016/j.jtos.2015.10.003ISI: 000375222400012OAI: oai:DiVA.org:liu-128758DiVA: diva2:931920
Note

Funding Agencies|Ogonfonden; Swedish Research Council [2012-2472]; Country of Ostergotland; Kronprinsessan Margaretas Arbetsnamnd

Available from: 2016-05-31 Created: 2016-05-30 Last updated: 2016-06-22

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The full text will be freely available from 2016-12-29 00:00
Available from 2016-12-29 00:00

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Ihnatko, RobertEdén, UllaFagerholm, PerLagali, Neil
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Division of Microbiology and Molecular MedicineFaculty of Medicine and Health SciencesDivision of Neuro and Inflammation ScienceDepartment of Ophthalmology in Linköping
Psychiatry

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