Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.

PURPOSE: Aniridia is a rare panocular disorder caused by mutations in the PAX6 gene and characterized mainly by iris hypoplasia. Here, we present six families with a history of low vision/blindness with a previously undiagnosed mild aniridia phenotype with minimal iris changes. METHODS: Retrospective case series of patients diagnosed with a subtle aniridia phenotype characterized by minimal iris abnormalities, foveal hypoplasia, and an identified mutation in PAX6. Data collection from patient's charts included ocular examination findings, visual acuity, refraction, and clinical pictures when available. Genetic analysis was performed by isolation of genomic DNA from peripheral blood. The main outcome was the identification of patients with mild aniridia harboring a PAX6 mutation. RESULTS: In all six families, the phenotype included minimal corectopia and foveal hypoplasia; nystagmus was present in 10 out of 11 patients. A PAX6 mutation was identified in all six families; three of these mutations were identified previously, and three are novel mutations. All the mutations are located within the conventional 128-residue paired domain of PAX6. CONCLUSIONS: A mild form of aniridia should be considered in the differential diagnosis of patients with low vision associated with mild iris abnormalities, nystagmus, and foveal hypoplasia. To ensure an accurate diagnosis of aniridia, minimal pupillary changes and/or incipient keratopathy should be examined. The broad phenotypic heterogeneity among aniridia leads to the fact that eye care clinicians must have a high index of suspicion for the disease when seeing undiagnosed low vision patients, because proper diagnosis can improve management as well as facilitate genetic testing and counselling.

Systemic Treatment With Cyclosporine A in Children With Severe Vernal Keratoconjunctivitis.

PURPOSE: To report our experience with systemic cyclosporine as a treatment for severe vernal keratoconjunctivitis (VKC) in pediatric patients who did not respond to previous treatments. METHODS: We analyzed the medical records of 6 patients, aged 4 to 15 years, with severe VKC treated with systemic cyclosporine for VKC at Shamir Medical Center in Zerifin, Israel, between the years 2000 and 2023. The average treatment duration was 18 months. In all patients, previous treatments with antihistamines, mast cells stabilizers, topical steroids and topical cyclosporine, and systemic steroids did not result in sufficient improvement. The severity of inflammation was evaluated during clinical examinations and the patients' subjective assessment of their quality of life. RESULTS: In all 6 patients, signs and symptoms showed significant improvement within 2 to 4 weeks of initiating systemic cyclosporine treatment. All patients were able to discontinue regular steroids use and reported a significant improvement in their quality of life. No significant side effects were observed in any of the patients. CONCLUSIONS: Systemic cyclosporine is a safe and effective treatment for severe VKC. It is a steroid-sparing treatment that allows good quality of life, while keeping the disease latent.

Effect of repeated applanation tonometry on the accuracy of intraocular pressure measurements.

PURPOSE: To evaluate the stability of successive applanation tonometry measurements in glaucomatous eyes. METHODS: A prospective, comparative, randomized, and evaluator-masked study was conducted in a tertiary medical center. Sixty-seven patients with glaucoma attending our glaucoma clinic underwent four successive intraocular pressure (IOP) measurements with Goldmann-type applanation tonometry. Findings were compared with 70 patients scheduled for cataract surgery, similar in age and sex. The results were statistically analyzed with repeated measures analysis. RESULTS: In the glaucoma group, the difference between the first and second IOP measurements was statistically significant (15.94 mmHg vs 14.9 mmHg, p < 0.0001), as was the decrease in IOP from the first measurement to each of the other successive measurements. No significant change in IOP was noted in the control group (mean, 13.7 mmHg). CONCLUSIONS: Patients with glaucoma show a decrease in IOP on repeated applanation tonometry measurements. By contrast, in individuals without glaucoma, no significant decrease in IOP on repeated applanation tonometry measurements was found.