Lamellar and penetrating keratoplasty in congenital aniridia

Abstract

Aniridia is a rare panocular disorder affecting the cornea, anterior chamber, iris, lens, retina, macula and optic nerve. It occurs as a result of abnormal neuro-ectodermal development secondary to a mutation in the PAX6 gene, linked to 11p13 chromosome. In this group of patients, one of the causes of progressive loss of vision and morbidity is keratopathy derived from the dysfunction of limbal stem cell deficiency. The absence of this important limbal structure suggests the origin of the epithelial abnormalities involving a progressive corneal opacification, subepithelial fibrosis and neovascularization. The management of ocular surface diseases in aniridia is complex but has changed in recent years. The progresses in the understanding of the mechanisms involved in cellular renewal of the cornea have allowed an adequate therapeutic approach of these patients. The current treatments for aniridic keratopathy are to replace the limbal stem cells through kerato-limbal allograft with or without subsequent keratoplasty for visual rehabilitation. Based on our experience, Descemet's membrane and endothelium complex in aniridic patients with keratopathy, has shown to be normal. For that reason, we propose that patients with advanced aniridic keratopathy could be candidates for deep anterior lamellar keratoplasty associated to limbal allograft instead of penetrating keratoplasty.