Objective: To determine the prevalence of vernal keratoconjuntivitis (VKC) in Europe. Methods: A cross-sectional survey was mailed to 3003 ophthalmologists from six countries (Finland, France, Italy, The Netherlands, Norway and Sweden) representing 151.9 million inhabitants. Results were analysed per country, and VKC prevalence for the 15 European member states in 2002 was extrapolated. Six hypotheses were used: disease duration (4 or 8 years) combined with three prevalence hypotheses for non-responding ophthalmologists. Results: The response rate to the survey was 29.5%. The estimates of VKC prevalence in Western Europe (per 10 000 inhabitants) ranged from 1.16 to 10.55. The prevalence of VKC with corneal complications ranged from 0.30 to 2.26. The VKC prevalences per country were in the following ranges: Italy 2.4–27.8, Finland, 0.7–8.4, Sweden 1.2–8.7, The Netherlands 0.6–4.6, France 0.7–3.3 and Norway 0.3–1.9. VKC with corneal complications were: Italy 0.4–4.8, Sweden 0.3–2.4, Finland 0.2–2.8, The Netherlands 0.2–1.6, France 0.3–1.4 and Norway 0.1–1.0. Conclusions: Based on the most likely hypotheses concerning disease duration and non-responding ophthalmologists’ VKC case rate, the best estimate of VKC prevalence in Western Europe is 3.2/10 000 inhabitants. The prevalence of VKC with corneal complications is 0.8/10 000 inhabitants.

Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability, mild hypocalcemia, muscle fatigue, asplenia, and ichthyosis. Using targeted sequencing and whole‐exome sequencing, we identified the c.910C > T transition in a STIM1 allele (p.R304W) only in patients and not in their unaffected family members. STIM1 encodes stromal interaction molecule 1 protein (STIM1), which is a finely tuned endoplasmic reticulum Ca²⁺ sensor. The effect of the mutation on the structure of STIM1 was investigated by molecular modeling, and its effect on function was explored by calcium imaging experiments. Results obtained from calcium imaging experiments using transfected cells together with fibroblasts from one patient are in agreement with impairment of calcium homeostasis. We show that the STIM1 p.R304W variant may affect the conformation of the inhibitory helix and unlock the inhibitory state of STIM1. The p.R304W mutation causes a gain of function effect associated with an increase in both resting Ca²⁺ levels and store‐operated calcium entry. Our study provides evidence that Stormorken syndrome may result from a single‐gene defect, which is consistent with Mendelian‐dominant inheritance.

Vernal keratoconjunctivitis (VKC) is a chronic, allergic, and potentially severe ocular disease affecting children and adolescents that can lead to impaired quality of life (QoL) and loss of vision. This study evaluated the efficacy and safety of an investigational therapy for severe VKC, cyclosporine A (CsA) cationic emulsion (CE), an oil-in-water emulsion with increased bioavailability versus conventional CsA formulations. The VErnal KeratoconjunctiviTIs Study (VEKTIS) is a phase 3, multicenter, double-masked, vehicle-controlled trial. Pediatric patients (4 to younger than 18 years) with active severe VKC (grade of 3 or 4 on the Bonini severity scale) and severe keratitis (corneal fluorescein staining [CFS] score of 4 or 5 on the modified Oxford scale). One hundred sixty-nine patients were randomized to CsA CE 0.1% (1 mg/ml) eye drops 4 times daily (high dose), CsA CE twice daily (low dose) plus vehicle twice daily, or vehicle 4 times daily for 4 months. The primary end point was a mean composite score that reflected CFS, rescue medication use (dexamethasone 0.1% 4 times daily), and corneal ulceration over the 4 months. Differences in least-squares means versus vehicle for the primary end point were statistically significant for both the high-dose (0.76; P = 0.007) and the low-dose (0.67; P = 0.010) groups, with treatment effect mainly driven by CFS score. Significant differences were found between both active treatment groups and vehicle for use of rescue medication. Vernal keratoconjunctivitis symptoms and patient QoL (assessed by visual analog scale and the Quality of Life in Children with Vernal Keratoconjunctivitis questionnaire) improved in all 3 groups, with significant improvements for high-dose CsA CE versus vehicle. The efficacy of high-dose CsA CE in improving keratitis, symptoms, and QoL for those with severe VKC was demonstrated in these study patients. In addition, in this study cohort, CsA CE was well tolerated.

This review summarizes current knowledge on ocular conditions related to abnormal visual development in infants, including prevalence, risk factors, causes, and mechanisms involved. We discuss the role of eyeball growth with pathologic mechanism of visual deprivation and development of amblyopia in infants, particular developmental issues in preterm neonates, methods of visual assessment and screening, diagnosis, treatment, and nutritional issues. Visual development is incomplete at birth, particularly in premature infants; maturation of the visual system--including neurological and ocular components--is influenced by many factors including prenatal and postnatal nutrition and postnatal visual stimulation. In early life, particularly during sensitive periods of development, abnormal visual input, for example caused by visual deprivation mechanism, amblyopia, or ocular misalignment, leads to abnormalities in visual development, including abnormal eyeball growth and neurological changes. Untreated anomalies or abnormal visual development can result in long-term or even permanent visual impairment. Nutrition plays a key role in visual development: infant formulas containing nutrients essential for normal visual development (specifically omega-3 fatty acid docosahexaenoic acid and omega-6 fatty acid arachidonic acid) may protect nonbreast-fed infants against visual development abnormalities. Problems related to visual anomalies are common among young children, particularly in preterm neonates. Screening to enable early diagnosis and correction of visual deficiency is important as abnormal visual input can lead to abnormalities in visual development, which can become permanent visual impairment if left untreated. Optimized nutrition can help to reduce the risk of abnormal visual development and prevent long-term or permanent visual deficits.