ArticleThe British journal of ophthalmology2023
Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window.
Article in The British journal of ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Aniridia-associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets.Acta ophthalmologica · 2026Review
- The impact of vision impairment on living with congenital aniridia: a pan-European survey study.Orphanet journal of rare diseases · 2026Article
- Sexual Dimorphism Is Associated With Corneal Nerve and Epithelial Alterations and Tear-Film Defects in Pax6 Haploinsufficiency Mouse Model.Investigative ophthalmology & visual science · 2026Article
- mRNA Sequencing of Limbal Epithelial Cells and mRNA/miRNA Profiling of Limbal Stromal Cells inCells · 2026Article
- Altered Ocular Surface Temperature in Congenital Aniridia withLife (Basel, Switzerland) · 2026Article
- Article
- Central Corneal Epithelial Wounding Accelerates Aniridia-Associated Keratopathy in PAX6-Deficient Mice.Investigative ophthalmology & visual science · 2025Article
- The Effect of Glaucoma Treatment on Aniridia-Associated Keratopathy (AAK) - A Report from the Homburg Register for Congenital Aniridia.Klinische Monatsblatter fur Augenheilkunde · 2025Article
- The Correlation Between Meibomian Gland Dysfunction and Aniridia-Associated Keratopathy: A Prospective Analysis.Journal of clinical medicine · 2025Article
- Article
- A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies.JCI insight · 2024Article
- Pediatric cataract surgery in congenital anterior segment dysmorphology: An overview.Taiwan journal of ophthalmologyReview
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia.
methods45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study. Whole-exome sequencing identified the causative mutation. Examinations included slit-lamp biomicroscopy, in vivo confocal microscopy, Ocular Surface Disease Index (OSDI) score, blink rate, Schirmer I test, Oxford Staining Score (OSS), tear film break-up time (TFBUT) and Ocular Protection Index (OPI).
resultsThere were age-dependent increases in OSDI (β=0.34, 95% CI 0.03 to 0.66; p=0.030), blink rate (β=0.18, 95% CI 0.08 to 0.27; p<0.001) and OSS (β=0.05, 95% CI 0.03 to 0.07; p<0.001) and age-dependent reductions in tear production (β=-0.23, 95% CI -0.43 to 0.02; p=0.029) and TFBUT (β=-0.10, 95% CI -0.17 to -0.04; p<0.001). Perturbed OSDI, OSS, blink rate, tear production and TFBUT were noted after the age of ten and OSDI, OSS, blink rate and TFBUT correlated with deficient corneal nerves and limbal stem cell function. OSDI, blink rate, Schirmer, OSS, TFBUT and OPI were not associated with type of
conclusionsOcular surface damage and dry eye signs appear in congenital aniridia regardless of mutation, appearing after 10 years of age and progressing thereafter. An early treatment window may exist for therapies to protect the ocular surface homoeostasis and limbal function, to possibly delay keratopathy development and progression.
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