[HTML][HTML] Congenital aniridia–A comprehensive review of clinical features and therapeutic approaches
ECS Landsend, N Lagali, TP Utheim - Survey of ophthalmology, 2021 - Elsevier
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 …
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 …