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Purpose: To investigate the tear cytokine profile in congenital aniridia, and correlate cytokine levels with ophthalmologic findings.
Methods: We examined 35 patients with aniridia and 21 healthy controls. Tear fluid was collected with Schirmer I test and capillary tubes from each eye, and the concentration of 27 inflammatory cytokines determined using multiplex bead assay. Eyes of all participants were examined with tests for dry eye disease, including evaluation of meibomian glands (meibography). Differences in cytokine levels between the two groups were analyzed, and correlations between cytokine concentrations and ophthalmologic findings in the aniridia group investigated.
Results: The concentrations of six tear cytokines were significantly higher in aniridia patients than controls in both eyes, and included interleukin 1β (IL-1β), IL-9, IL-17A; eotaxin; basic fibroblast growth factor (bFGF/FGF2); and macrophage inflammatory protein 1α (MIP-1α/CCL3). The ratio between the anti-inflammatory IL-1RA and the proinflammatory IL-1β was significantly lower in patients than controls in both eyes (P = 0.005 right eye and P = 0.001 left eye). Increasing concentration of IL-1β, IL-9, IL-17A, FGF2, and MIP-1α correlated with parameters for meibomian gland dysfunction (MGD) in the aniridia group, including increasing atrophy of meibomian glands, and shorter break-up time of the tear film.
Conclusions: A number of pro-inflammatory cytokines are significantly elevated in tear fluid from aniridia patients, and correlate with parameters for MGD in aniridia. Increased inflammation of the ocular surface may be a factor in the development of MGD in aniridia patients, and explain the high prevalence of MGD and dry eye disease in these patients.
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http://dx.doi.org/10.1167/iovs.18-24027 | DOI Listing |
Am J Ophthalmol
September 2025
Department of Ophthalmology, Université de Montréal, Montréal, Québec, Canada.
Purpose: To evaluate the incidence, risk factors, management strategies, and visual outcomes of retinal detachment (RD) following Boston Keratoprosthesis Type 1 (KPro) implantation.
Design: Single-center, retrospective observational case series.
Methods: Medical records of 157 eyes from 122 adult patients who underwent Boston Type 1 KPro implantation at a tertiary care center between 2008 and 2022 were reviewed.
Acta Ophthalmol
September 2025
Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France.
Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated with the disease, such as cataract, keratopathy and optic nerve hypoplasia.
View Article and Find Full Text PDFCan J Ophthalmol
September 2025
Department of Ophthalmology, Université de Montréal, Montreal, QC, Canada; Department of Ophthalmology, Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada.
Objective: Boston keratoprosthesis (KPro) plays an important role in treating complex corneal disease but is associated with many complications. This study addresses correlations and trends found in KPro patients, to understand the evolution and optimize postoperative care to minimize complications.
Design: A retrospective case series analyzing outcomes and evolution over 15 years.
PLoS One
August 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg/Saar, Germany.
Purpose: Haploinsufficiency of the PAX6 gene is the primary pathogenic mechanism underlying classical congenital aniridia. Notably, at least 50% of patients with this condition develop glaucoma. Prostaglandin analogues, such as travoprost, are widely used to lower intraocular pressure in this patient population.
View Article and Find Full Text PDFClin Ophthalmol
July 2025
Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA.
Purpose: To evaluate long-term clinical outcomes after Ahmed Glaucoma Valve implantation in glaucoma associated with aniridia.
Methods: This was a retrospective, noncomparative, consecutive, interventional case series of 20 eyes in 15 patients with aniridic glaucoma treated with the Ahmed Glaucoma Valve (Model FP7, New World Medical, Rancho Cucamonga, CA). Patient records were reviewed for intraocular pressure (IOP), number of glaucoma medications, surgical success (5 mmHg ≤ IOP ≤ 21 mmHg and ≥20% from baseline, without additional glaucoma surgery, and without loss of light perception vision), and complications.