Congenital aniridia: etiology, manifestations and management

Abstract

Summary Congenital aniridia manifests as total or partial absence of the iris caused most commonly by mutations in PAX6, FOXC1, PITX2, and CYP1B1. Recently two new genes, FOXD3 and TRIM44, have also been implicated in isolated studies. We discuss the genotype-phenotype correlations for the main implicated genes. Classic aniridia is a panocular condition, which includes aniridia, cataract, corneal pannus, foveal, and optic nerve hypoplasia associated with mutations in the PAX6 gene. Classical aniridia is due to PAX6 mutations, while other genes contribute to aniridia-like phenotypes. We review the challenges involved in the management of aniridia, and discuss various surgical interventions. The clinical importance of defining the genotype in cases of congenital aniridia has become acutely apparent with the advent of possible therapies for classical aniridia, which are discussed.

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

“…By ophthalmologic evaluation, aniridia was the most prominent sign. Congenital aniridia is characterized by “partial or near total absence of iris”, aniridia-associated keratopathy (AAK), glaucoma, cataract, foveal hypoplasia, optic disk hypoplasia, and nystagmus [ 11 , 12 ]. Limbal stem cell deficiency promotes the development of AAK that features “thickening and vascularization of the peripheral cornea” resulting in corneal opacities and increased central corneal thickness.…”

“…Limbal stem cell deficiency promotes the development of AAK that features “thickening and vascularization of the peripheral cornea” resulting in corneal opacities and increased central corneal thickness. Aniridia can be associated with other abnormalities, for example in WAGR syndrome [ 11 ], and can be caused by genetic variants in PAX6, FOXC1, PITX2, CYP1B1, FOXD3 , and TRIM44 , respectively [ 12 ].…”

A novel variant in PAX6 as the cause of aniridia in a Chinese family

“…Iris hypoplasia is the most important feature of aniridia, which can range from complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp [3]. The incidence of other features for classic aniridia was different, nystagmus was 76%, cataract was 56%, glaucoma was 64% and visible keratopathy was 80% [17]. In this study, we identi ed the pathogenic gene mutation in a Chinese aniridia family using an iris diseases panel including 37 targeted genes.…”

A novel variant in PAX6 as the cause of aniridia in a Chinese family

“…Iris hypoplasia was the most important feature of aniridia, which could range from complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The incidence of other features of classic aniridia was different, nystagmus was 76%, cataract was 56%, glaucoma was 64% and visible keratopathy was 80% [17]. In this study, we identi ed the pathogenic gene mutation in a Chinese aniridia family using an iris diseases panel including 37 targeted genes.…”