[HTML][HTML] Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches

A Daruich, M Duncan, MP Robert, N Lagali… - Progress in retinal and …, 2023 - Elsevier
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

[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 …

Congenital aniridia and ocular motility

M Alafaleq, L Sordello, D Bremond-Gignac - American Journal of …, 2023 - Elsevier
PURPOSE To study the frequency and types of strabismus in congenital aniridia, the
presence of associated nystagmus, foveal hypoplasia, and congenital cataracts. DESIGN …

Clinical, Demographic, and Tomographic Aspects Related to Iris Mammillations Among Patients With Keratoconus: A Cross-Sectional Study

R Antunes-Foschini, RMS Costa, CRÂ Menezes‐Filho… - Cornea, 2020 - journals.lww.com
Purpose: Iris mammillations (IM) were previously described in patients with keratoconus, but
the clinical implications of this finding have never been studied. Our aim was to investigate …