Abstract
BackgroundTo study structural changes in naïve and surgically treated corneas of aniridia patients with advanced aniridia-related keratopathy (ARK).Methods and findingsTwo naïve corneal buttons from patients with advanced ARK submitted to penetrating keratoplasty for the first time, one corneal button from an ARK patient that had undergone a keratolimbal allograft (KLAL), two corneal buttons from ARK patients who had previously undergone centered or decentered transplantation and were now retransplanted and two adult healthy donor control corneas were processed for immunohistochemistry. Antibodies against extracellular matrix components in the stroma and in the epithelial basement membrane (collagen I and IV, collagen receptor α11 integrin and laminin α3 chain), markers of fibrosis, wound healing and vascularization (fibronectin, tenascin-C, vimentin, α-SMA and caveolin-1), cell division (Ki-67) and macrophages (CD68) were used. Naïve ARK, KLAL ARK corneas and transplanted corneal buttons presented similar histopathological changes with irregular epithelium and disruption or absence of epithelial basal membrane. There was a loss of the orderly pattern of collagen lamellae and absence of collagen I in all ARK corneas. Vascularization was revealed by the presence of caveolin-1 and collagen IV in the pannus of all ARK aniridia corneas. The changes observed in decentered and centered transplants were analogous.ConclusionsGiven the similar pathological features of all cases, conditions inherent to the host seem to play an important role on the pathophysiology of the ARK in the long run.
Highlights
Aniridia is a rare disorder caused by mutations in the PAX6 gene, essential for the development of the eye
Two naïve corneal buttons from patients with advanced aniridia related keratopathy (ARK) submitted to penetrating keratoplasty for the first time, one corneal button from an ARK patient that had undergone a keratolimbal allograft (KLAL), two corneal buttons from ARK patients who had previously undergone centered or decentered transplantation and were retransplanted and two adult healthy donor control corneas were processed for immunohistochemistry
Structural changes in aniridia-related keratopathy funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
Summary
Aniridia is a rare disorder caused by mutations in the PAX6 gene, essential for the development of the eye. The developmental disturbances associated with aniridia affect several different structures of the eye, including the cornea, anterior chamber, iris, lens, retina and optic nerve [2] and one of the most visually significant consequences is aniridia related keratopathy (ARK). ARK usually includes limbal stem cell-deficiency associated with impaired epithelial cell adhesion, conjunctivalization and corneal vascular pannus, that typically appear after childhood [2, 3, 4] and result in a thickened vascularized cornea prone to repeated erosions with chronic irritation and vision-threatening opacification [5, 6]. Aniridia is often difficult to manage both medically and surgically. To study structural changes in naïve and surgically treated corneas of aniridia patients with advanced aniridia-related keratopathy (ARK)
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