High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia

BMC Ophthalmology 2026 Open access

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Authors: Marjolaine Willems, Jérôme Vialaret, Mélissa Girard, Nadège Feret, Dominique Bremond-Gignac, Nicolas Chassaing, Jana Kindermans, Laura Fichter, Christophe Hirtz, Caroline Mollevi, Hannah Crowdy, Marie Pequignot
+3 more Cécile Delettre, Vincent Daïen, Frédéric Michon
DOI: 10.1186/s12886-026-04958-8
Cited by: 1
References: 46

Abstract

BACKGROUND: Congenital aniridia is a rare disorder presenting as a panocular malformation with variable severity, often complicated by progressive keratopathy. The purpose of this study was to characterise the tear-film proteome in adults with PAX6-related congenital aniridia and to identify dysregulated pathways linked to aniridia associated keratopathy (AAK). METHODS: Tears were obtained with Schirmer strips from four genetically confirmed patients and four age- and sex-matched healthy volunteers. Peptides prepared with the single-pot, solid-phase-enhanced (SP3) protocol were analysed by data-independent nanoLC-MS/MS. Proteins were identified with a false discovery rate (FDR)

Fields of Study & Subjects

Nasolacrimal Duct Obstruction Treatments Ocular Surface and Contact Lens Ocular Infections and Treatments

Publication details

Journal / source
BMC Ophthalmology
Publisher
Springer Science and Business Media LLC
Volume
26
Issue
1
Publication date
27 May 2026
Language
EN