survey of ophthalmology 66 (2021) 1031–1050 Available online at www.sciencedirect.com j o u r n a l h o m e p a g e : w w w . e l s e v i e r . c o m / l o c a t e / s u r v o p h t h a l Review article Congenital aniridia –A comprehensive review of clinical features and therapeutic approaches Erlend C.S. Landsend, MD, PhD a, ∗ , Neil Lagali, PhD b , Tor P. Utheim, MD, PhD a, c a Department of Ophthalmology, Oslo University Hospital, Oslo, Norway b Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden c Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway a r t i c l e i n f o Article history: Received 18 June 2020 Revised 16 February 2021 Accepted 23 February 2021 Available online 4 March 2021 Keywords: Aniridia Genetics Complications Treatment Dry eye disease Keratopathy Glaucoma Cataract Foveal hypoplasia Systemic findings a b s t r a c t 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. © 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/). Abbreviations: AAK, aniridia associated keratopathy; DED, dry eye disease; FAF, fundus autofluorescence; MGD, meibomian gland dys- function; Mmp9, metalloproteinase 9; MRI, magnetic resonance imaging; OCT, optical coherence tomography; ONH, optic nerve hypopla- sia; PAX6, paired-box gene 6; RPE, retinal pigment epithelium; WAGR, Wilms’ tumor, aniridia, genitourinary abnormalities and mental retardation. ∗ Corresponding author: Erlend C. S. Landsend, MD, PhD, Department of Ophthalmology, Oslo University Hospital, Mailbox 4950 Nydalen, 0424, Oslo, Norway. E-mail address: [email protected] (E.C.S. Landsend). 0039-6257/$ – see front matter © 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/) https://doi.org/10.1016/j.survophthal.2021.02.011
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