ArticleBMC ophthalmology2026
High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia.
Article in BMC ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05562115 (Proteomic Study of Tears From Patients With a PAX6 Mutation), which is not on this map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Proteomic Study of Tears From Patients With a PAX6 Mutation
Who cites it
1 citing paper in PubMed.
- Integrated Analysis of mRNA and microRNA Expression in Corneal Impression Cytology Samples from Patients withInternational journal of molecular sciences · 2026Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital 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).
methodsTears 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) <1% during DIA data processing. Differential abundance between controls and patients samples was assessed using an adjusted p-value < 0.05. Proteins with |log₂-fold change| ≥1 were considered significantly expressed. Functional enrichment was evaluated with Enrichr (Gene Ontology, Reactome, JensenExp, Orphanet, TissueExp).
resultsA total of 3 162 proteins were detected; 2 633 showed a valid intensity in every sample of at least one group and were retained for statistical testing. Seventy-three (2.8%) were differentially expressed: 33 were over-expressed and 40 under-expressed in aniridia tears. Down-regulated proteins clustered in lipid homeostasis, epithelial junction integrity and wound-healing modules and included lacritin, secretoglobins and cytoskeletal adaptors, indicating a fragile, poorly repaired surface. Up-regulated species were dominated by neutrophil effectors (CD177 ≈ 50-fold) and reflected heightened innate immunity and abnormal epithelial maturation. Anti-angiogenic processes were significantly over-represented in both under and over-expressed protein sets.
conclusionOur workflow proved highly sensitive, capturing more than 3 000 tear proteins and thus underscoring the robustness of our proteomic approach. The tear film in aniridia reflects dysregulation of various processes, including immunity, lipid and epithelial homeostasis, and vascular remodelling. Our approach highlights novel biomarkers critical for developing targeted therapeutic strategies.
trial registrationClinicalTrials.gov, NCT05562115. Registered on 29 September 2022.
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