WFRF:(Utheim Tor P.)
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Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches
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- Landsend, Erlend C. S. (author)
- Oslo Univ Hosp, Norway
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- Lagali, Neil (author)
- Linköpings universitet,Avdelningen för sinnesorgan och kommunikation,Medicinska fakulteten,Region Östergötland, Ögonkliniken US
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- Utheim, Tor P. (author)
- Oslo Univ Hosp, Norway; Oslo Univ Hosp, Norway
- (creator_code:org_t)
- Elsevier Science INC, 2021
- 2021
- English.
- In: Survey of ophthalmology. - : Elsevier Science INC. - 0039-6257 .- 1879-3304. ; 66:6, s. 1031-1050
- Research review (peer-reviewed)
Abstract
Subject headings
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- Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. In most cases the genetic origin of aniridia is a mutation in the PAX6 gene, lead-ing to involvement of most eye structures. Hypoplasia of the fovea is usually present and is associated with reduced visual acuity and nystagmus. Aniridia-associated keratopathy, glaucoma, and cataract are serious and progressive complications that can further reduce visual function. Treatment of the ocular complications of aniridia is challenging and has a high risk of side effects. New approaches such as stem cell therapy may, however, offer better prognoses. We describe the various ocular manifestations of aniridia, with a special focus on conditions that commonly require treatment. We also review the growing literature reporting systemic manifestations of the disease. (c) 2021 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ).
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Keyword
- Aniridia; Genetics; Complications; Treatment; Dry eye disease; Keratopathy; Glaucoma; Cataract; Foveal hypoplasia; Systemic findings
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