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The genetics of congenital aniridia-a guide for the ophthalmologist
Oslo University Hospital, Norway; University of Oslo, Norway.
Oslo University Hospital, Norway.
University of Coll Southeast Norway, Norway.
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.ORCID iD: 0000-0003-1079-4361
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2018 (English)In: Survey of ophthalmology, ISSN 0039-6257, E-ISSN 1879-3304, Vol. 63, no 1, p. 105-113Article, review/survey (Refereed) Published
Abstract [en]

Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated nonocular features of the disease are also being recognized. Over the past decades, major steps have been made in the understanding of the genetic basis of aniridia. Moreover, recent studies have prepared the ground for future treatment options based on specific mutations. Therefore, specific knowledge about genetics in aniridia has become more important than ever. We provide an overview of the field of aniridia genetics and its clinical implications. (C) 2017 Elsevier Inc. All rights reserved.

Place, publisher, year, edition, pages
ELSEVIER SCIENCE INC , 2018. Vol. 63, no 1, p. 105-113
Keywords [en]
aniridia; genetics; PAX6 gene; haploinsufficiency; PAX6 mutations; phenotype; genetic investigations
National Category
Ophthalmology
Identifiers
URN: urn:nbn:se:liu:diva-143892DOI: 10.1016/j.survophthal.2017.09.004ISI: 000417673300007PubMedID: 28923585OAI: oai:DiVA.org:liu-143892DiVA, id: diva2:1170075
Available from: 2018-01-02 Created: 2018-01-02 Last updated: 2018-01-22

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Lagali, Neil
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Division of Neuro and Inflammation ScienceFaculty of Medicine and Health SciencesDepartment of Ophthalmology in Linköping
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