Association of Topical Therapy and Surgical Management with Corneal Parameters in Congenital PAX6-Related Classical Aniridia: a Cross-Sectional Study.
11 affiliations
- 1Department of Ophthalmology, Semmelweis University, Mária utca 39, 1085, Budapest, Hungary. [email protected].
- 2Department of Ophthalmology, Semmelweis University, Mária utca 39, 1085, Budapest, Hungary.
- 3Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
- 4Heim Pál National Pediatric Institute, Budapest, Hungary.
- 5Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
- 6Biomedical Research Networking Center on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
- 7MTA-SE Lendület Nephrogenetic Laboratory, Hungarian Academy of Sciences, Budapest, Hungary.
- 81 st Department of Pediatrics, Semmelweis University, Budapest, Hungary.
- 9Experimental Ophthalmology, Saarland University, Homburg, Saar, Germany.
- 10Centre for Translational Medicine, Semmelweis University, Budapest, Hungary.
- 11Institute of Pancreatic Diseases, Semmelweis University, Budapest, Hungary.
Abstract
Introduction
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).Methods
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.Results
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.Conclusions
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.
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BibTeX
@article{li2026association,
title = {{Association of Topical Therapy and Surgical Management with Corneal Parameters in Congenital PAX6-Related Classical Aniridia: a Cross-Sectional Study.}},
author = {Yubo Li and Clara Grünauer-Kloevekorn and Mária Csidey and Annamária Náray and Anita Csorba and Fabian Norbert Fries and Klaudia Kéki-Kovács and Erika Maka and Marta Corton and Kálmán Tory and Eszter Jávorszky and Zoltán Zsolt Nagy and Achim Langenbucher and Márk Bérchegyi and Szilárd Váncsa and Nóra Szentmáry},
journal = {Ophthalmology and therapy},
year = {2026},
month = oct,
doi = {10.1007/s40123-026-01520-z},
url = {https://europepmc.org/article/MED/42837043},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Association of Topical Therapy and Surgical Management with Corneal Parameters in Congenital PAX6-Related Classical Aniridia: a Cross-Sectional Study.
AU - Yubo Li
AU - Clara Grünauer-Kloevekorn
AU - Mária Csidey
AU - Annamária Náray
AU - Anita Csorba
AU - Fabian Norbert Fries
AU - Klaudia Kéki-Kovács
AU - Erika Maka
AU - Marta Corton
AU - Kálmán Tory
AU - Eszter Jávorszky
AU - Zoltán Zsolt Nagy
AU - Achim Langenbucher
AU - Márk Bérchegyi
AU - Szilárd Váncsa
AU - Nóra Szentmáry
PY - 2026
DA - 2026/10/06
JO - Ophthalmology and therapy
DO - 10.1007/s40123-026-01520-z
UR - https://europepmc.org/article/MED/42837043
AB - Introduction 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).Methods 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.Results 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.Conclusions 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.
SN - 2193-8245
SN - 2193-6528
ER -