Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches.
Aniridia
Cataract
Complications
Dry eye disease
Foveal hypoplasia
Genetics
Glaucoma
Keratopathy
Systemic findings
Treatment
Journal
Survey of ophthalmology
ISSN: 1879-3304
Titre abrégé: Surv Ophthalmol
Pays: United States
ID NLM: 0404551
Informations de publication
Date de publication:
Historique:
received:
18
06
2020
revised:
16
02
2021
accepted:
23
02
2021
pubmed:
7
3
2021
medline:
31
3
2022
entrez:
6
3
2021
Statut:
ppublish
Résumé
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, leading 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.
Identifiants
pubmed: 33675823
pii: S0039-6257(21)00065-5
doi: 10.1016/j.survophthal.2021.02.011
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1031-1050Commentaires et corrections
Type : CommentIn
Type : CommentIn
Informations de copyright
Copyright © 2021. Published by Elsevier Inc.