Although significant health problems outside the skeleton are frequent in adult patients with OI, the patients are not consistently monitored and treated for their symptoms. Clinicians treating adult patients with OI should be aware of non-skeletal health issues and consider including regular interdisciplinary check-ups in the management plan for adult OI patients.

Microtubules are formed from heterodimers of alpha and beta tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in TUBB3 , which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development, with distinct genotype-phenotype correlations. Here, we report fourteen individuals from thirteen unrelated families, each of whom harbors the identical NM_006086.4(TUBB3):c.785G>A (p.Arg262His) variant resulting in a phenotype we refer to as the TUBB3 R262H syndrome. The affected individuals present at birth with ptosis, ophthalmoplegia, exotropia, facial weakness, facial dysmorphisms, and, in most cases, distal congenital joint contractures, and subsequently develop intellectual disabilities, gait disorders with proximal joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), and a progressive peripheral neuropathy during the first decade of life. Subsets may also have vocal cord paralysis, auditory dysfunction, cyclic vomiting, and/or tachycardia at rest. All fourteen subjects share a recognizable set of brain malformations, including hypoplasia of the corpus callosum and anterior commissure, basal ganglia malformations, absent olfactory bulbs and sulci, and subtle cerebellar malformations. While similar, individuals with the TUBB3 R262H syndrome can be distinguished from individuals with the TUBB3 E410K syndrome by the presence of congenital and acquired joint contractures, an earlier onset peripheral neuropathy, impaired gait, and basal ganglia malformations.

Purpose: Treatment of diabetic maculopathy with vascular endothelial growth factor inhibitors is in some patients ineffective, and, therefore, parameters predicting visual outcome after treatment should be identified. It has been shown that fixational saccades are increased in patients with reduced visual acuity secondary to diabetic maculopathy, but it is unknown to what extent these saccades in an eye affected by diabetic maculopathy are influenced by the other eye during binocular fixation. Methods: In 57 eyes from 29 diabetic patients with clinically significant macular edema, fixational eye movements were recorded using the iView X™ video-based eye tracker, and quantitative measures of fixation with the worst eye obtained during monocular and binocular fixation were compared. Results: Fixational saccades during monocular fixation had a significantly higher frequency (p = 0.005), a larger amplitude (p = 0.03), and involved a larger retinal area (p = 0.02) than during binocular fixation. There was a significant negative correlation (r² = 0.18, p = 0.02) between visual acuity and the area of fixation during monocular but not during binocular fixation (r² = 0.007, p = 0.68). Conclusion: Binocular fixation can reduce the area of fixation and the amplitude of fixational saccades in the worst eye of patients with diabetic maculopathy. Fixational saccades in diabetic maculopathy should be studied during monocular fixation.

Background: Children with cataract require frequent monitoring to detect complications, adjust refractive correction and treat amblyopia. This is time consuming for the families. The aim of the study was to evaluate how often children with cataract are seen as outpatients or under general anaesthesia during the first 7 years of life. Methods: We performed a retrospective chart review of all children with congenital and childhood cataract born between 2000 primo and 2017 seen at our institution. The cumulated number of outpatient visits and examinations and/or surgeries in general anaesthesia was extracted for age 1, 3, 5 and 7 years. Results: Children who had cataract surgery were seen significantly more often than children without surgery. During the first year of life, children with bilateral surgery had a median of nine outpatient visits, children with unilateral cataract had 11 and children without surgery had five outpatient visits. At 7 years of age, half of the children operated bilaterally before 1 year of age had undergone at least five procedures/examinations in general anaesthesia versus 1/4 of those with unilateral surgery and none of those without surgery. Children were seen less frequently with advancing age. Conclusion: The management, treatment and follow-up of children with cataract are demanding, requiring frequent hospital visits and repeated examinations and/ or surgical procedures in general anaesthesia over many years, but mainly during the first year of life. Surgical patients are more complex and require closer follow-up. This message is important to convey to the parents at the onset of the disease.

To determine the prevalence of allergic sensitization in patients with vernal keratoconjunctivitis (VKC) and to provide an overview of published studies on this topic. We systematically searched 11 literature databases on 24 May 2021, for studies with cross‐sectional data on the prevalence of positive allergy tests in patients with VKC. Our main outcome of interest was the prevalence of allergic sensitization and the allergens involved. Prevalence meta‐analyses were made to provide summary estimates. We identified 33 eligible studies for qualitative review with 2122 patients with VKC. Studies were predominantly based on patients seen in ophthalmology clinics. Overall, studies reported that the most prevalent positive allergen tests were the inhaled allergens house dust mites and pollen. Twenty‐nine studies were eligible for the quantitative analysis. Here, we calculated the prevalence of allergen‐positive patients to 57.7% (95% confidence interval: 52.5%–62.8%). Subgroup analyses of pooled estimates on sensitization based on specific testing methods found prevalence estimates of 51.4% for conjunctival provocation test, 68.7% for total tear IgE, 58.9% for specific tear IgE, and 58.2% for skin prick test. The prevalence of allergic sensitization in patients with VKC is 57.7%, and mostly towards inhaled allergens. The most frequent positive allergens are house dust mites and pollen. Identifying possible clinically relevant allergens provide information that may aid in managing VKC, such as environmental allergy‐avoidance or allergy‐specific treatment.