[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 …

Systemic diseases and the cornea

R Shah, C Amador, K Tormanen, S Ghiam… - Experimental eye …, 2021 - Elsevier
There is a number of systemic diseases affecting the cornea. These include endocrine
disorders (diabetes, Graves' disease, Addison's disease, hyperparathyroidism), infections …

Approach to childhood glaucoma: a review

T Karaconji, S Zagora, JR Grigg - Clinical & Experimental …, 2022 - Wiley Online Library
Childhood glaucoma represents a heterogenous group of rare ocular conditions that may
result in significant sight threatening complications related to elevated intraocular pressure …

[HTML][HTML] Future directions in managing aniridia-associated keratopathy

AJH Van Velthoven, TP Utheim, M Notara… - Survey of …, 2023 - Elsevier
Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia
and aniridia-associated keratopathy (AAK). AAK results in the progressive loss of corneal …

[HTML][HTML] Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

V Kit, DL Cunha, AM Hagag, M Moosajee - JCI insight, 2021 - ncbi.nlm.nih.gov
Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterized by
variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma, and aniridia-related …

An attempt to optimize the outcome of penetrating keratoplasty in congenital aniridia-associated keratopathy (AAK)

CJ Farah, FN Fries, L Latta, B Käsmann-Kellner… - International …, 2021 - Springer
Purpose To propose an optimized microsurgical and medical approach to reduce the risk of
complications after penetrating keratoplasty (PKP) in patients with aniridia-associated …

The limbal niche and regenerative strategies

S Amin, E Jalilian, E Katz, C Frank, G Yazdanpanah… - Vision, 2021 - mdpi.com
The protective function and transparency provided by the corneal epithelium are dependent
on and maintained by the regenerative capacity of limbal epithelial stem cells (LESCs) …

Glaucoma syndromes: insights into glaucoma genetics and pathogenesis from monogenic syndromic disorders

DA Balikov, A Jacobson, L Prasov - Genes, 2021 - mdpi.com
Monogenic syndromic disorders frequently feature ocular manifestations, one of which is
glaucoma. In many cases, glaucoma in children may go undetected, especially in those that …

Clinical outcomes and visual prognostic factors in congenital aniridia

A Jacobson, SI Mian, BL Bohnsack - BMC ophthalmology, 2022 - Springer
Background Evaluate outcomes and identify prognostic factors in congenital aniridia.
Methods Retrospective interventional case series of patients with congenital aniridia treated …

[HTML][HTML] Artificial iris implantation in congenital aniridia: A systematic review

D Romano, D Bremond-Gignac, M Barbany… - survey of …, 2023 - Elsevier
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a
partial or complete absence of the iris existing alongside other ocular morbidities such as …