Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches

Funding Agencies|European Union COST Action [CA-18116 ANIRIDIA-NET]
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/ ).

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Oftalmologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Ophthalmology hsv//eng
Aniridia; Genetics; Complications; Treatment; Dry eye disease; Keratopathy; Glaucoma; Cataract; Foveal hypoplasia; Systemic findings

Lagali, NeilLinköpings universitet,Avdelningen för sinnesorgan och kommunikation,Medicinska fakulteten,Region Östergötland, Ögonkliniken US(Swepub:liu)neina50 (författare)
Utheim, Tor P.Oslo Univ Hosp, Norway; Oslo Univ Hosp, Norway (författare)
Oslo Univ Hosp, NorwayAvdelningen för sinnesorgan och kommunikation (creator_code:org_t)

Ingår i:Survey of ophthalmology: Elsevier Science INC66:6, s. 1031-10500039-62571879-3304

Av författaren/redakt...: Landsend, Erlend ...; Lagali, Neil; Utheim, Tor P.

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Oftalmologi

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