Association of Topical Therapy and Surgical Management with Corneal Parameters in Congenital PAX6-Related Classical Aniridia: a Cross-Sectional Study

This study aimed to investigate associations of topical therapy and surgical management with the severity of aniridia-associated keratopathy (AAK), limbal stem cell deficiency (LSCD) and corneal microstructural alterations in patients with PAX6 -related congenital aniridia (CA). This cross-sectional study included eyes with genetically confirmed CA. Medical history, including preservative-free artificial tears, antiglaucoma medications (beta-blockers, brimonidine, carbonic anhydrase inhibitors, prostaglandin analogues), and ocular surgery was recorded. AAK and LSCD were graded. Anterior segment optical coherence tomography (AS-OCT) assessed epithelial and total corneal thickness, while in vivo confocal microscopy (IVCM) assessed subbasal nerve plexus parameters, Langerhans cell density (LCD), and stromal keratocyte density. Associations were analyzed using generalized estimating equations. Sixty-one eyes of 31 patients were analyzed. More advanced AAK and LSCD were associated with more frequent preservative-free artificial tear use. Antiglaucoma medications were associated with differences in corneal thickness, keratocyte and Langerhans cell densities, and subbasal nerve plexus parameters. Prostaglandin analogue use was associated with a heterogeneous pattern, including higher corneal nerve fiber density and length, higher middle stromal keratocyte density, and lower LCD. Previous ocular surgery showed limited associations with corneal microstructural parameters but was associated with lower corneal nerve network complexity. All findings were exploratory and hypothesis-generating. Topical therapy use is associated with differences in corneal structural and cellular parameters in congenital aniridia. Preservative-free artificial tear use is associated with more advanced AAK and LSCD, while antiglaucoma medications are associated with differences in corneal thickness, keratocyte and Langerhans cell densities, and corneal nerve parameters. Prostaglandin-treated eyes show a heterogeneous pattern of associations with corneal microstructural parameters. Given the cross-sectional design, whether these treatment-associated differences reflect medication effects, underlying disease severity, treatment selection, concomitant therapies, or residual confounding cannot be determined. These findings require longitudinal confirmation.