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Objective: To investigate in a large global sample of patients with retinoblastoma whether sex predilection exists for this childhood eye cancer. Methods: A cross-sectional analysis including 4351 treatment-naive retinoblastoma patients from 153 countries who presented to 278 treatment centers across the world in 2017. The sex ratio (male/female) in the sample was compared to the sex ratio at birth by means of a two-sided proportions test at global level, country economic grouping, continent, and for selected countries. Results: For the entire sample, the mean retinoblastoma sex ratio, 1.20, was higher than the weighted global sex ratio at birth, 1.07 (p< 0.001). Analysis at economic grouping, continent, and country-level demonstrated differences in the sex ratio in the sample compared to the ratio at birth in lower-middle-income countries (n= 1940), 1.23 vs. 1.07 (p= 0.019); Asia (n= 2276), 1.28 vs. 1.06 (p< 0.001); and India (n= 558), 1.52 vs. 1.11 (p= 0.008). Sensitivity analysis, excluding data from India, showed that differences remained significant for the remaining sample (χ2= 6.925, corrected p= 0.025) and for Asia (χ2= 5.084, corrected p= 0.036). Excluding data from Asia, differences for the remaining sample were nonsignificant (χ2= 2.205, p= 0.14). Conclusions: No proof of sex predilection in retinoblastoma was found in the present study, which is estimated to include over half of new retinoblastoma patients worldwide in 2017. A high male to female ratio in Asian countries, India in specific, which may have had an impact on global-level analysis, is likely due to gender discrimination in access to care in these countries, rather than a biological difference between sexes.

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI)gene.Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBIvariant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband.Conclusions: We classify the novel variant in TGFBIas possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBIvariants associated with a spectrum of phenotypes of variant LCD.

IMPORTANCE: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child’s life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. OBJECTIVES: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. DESIGN, SETTING, AND PARTICIPANTS: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. MAIN OUTCOMES AND MEASURES: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. RESULTS: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle–income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle–income countries vs upper-middle–income countries and HICs, 5.74 [95% CI, 4.30-7.68]). CONCLUSIONS AND RELEVANCE: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs.

Introduction This study, part of a series, analyses the Swiss cohort from an EBO survey on cataract surgery training in Europe, focusing on Switzerland's unique program. The survey identifies two models: training all residents in surgery, and a “high-volume surgeon” model where only some learn CS post-residency.Methods This study analyses the survey results of Swiss participants in the EBO examinations (2018–2022) and compared them with the most important cohorts (Germany, France and Spain).Results Out of 251 respondents, 87 (34.7%) answered the questionnaire. Most (70.1%) had taken the EBO exam between 2021–2022, with the majority of study participants being men (55.2%) with a median age of 34 years and came from 12 different cantons. Two third (68.8%) of respondents had not performed any steps of cataract surgery on patients during their residency. Notably, 22.1% stated that they had carried out 10 or more training sessions on virtual reality simulator, 5.8% on synthetic eyes and 21% on animal eyes. A notable discrepancy was observed between participants with 10 or more training sessions and those without specific training in four key areas: self-assessed confidence and ability to perform cataract surgery (p = 0.006), management of challenging cases (p = 0.027), handling complications like posterior capsular tear (p = 0.031) and in performing corneal sutures (p = 0.023).Discussion Switzerland fits into the “high-volume surgeon” model group; extensive simulation-based training there significantly boosts self-confidence in performing CS, an effect less noticeable in countries offering hands-on training during residency.

•Recovery was good in the majority of patients; 70% had visual acuity ≥0.8 at review.•Baseline visual acuity and optic disc swelling associated with poorer recovery.•MRI lesions of optic nerve associated with poorer recovery.•Diagnosis of MS, age, sex or Aquaporin-4 index were not associated with prognosis.•Incidence of optic neuritis showed a clear seasonal pattern.

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Purpose To report vascular comorbidities, arterial hypertension (HT), ischemic heart disease (IHD), and diabetes mellitus (DM) in patients with low-tension glaucoma (LTG) with maximum intraocular pressure (IOP) of 18 mm Hg or less. Uniform criteria for glaucoma and the comorbidities were applied.Methods We reviewed records of 519 consecutive patients to whom the Finnish National Social Insurance Institution (FSII) had granted cost-free medication for the treatment of glaucoma. The FSII operates national health insurance, which is compulsory for all Finnish citizens. There were 344 patients with primary open-angle glaucoma (POAG) and 155 with exfoliative glaucoma (EG). Twenty cases were discarded for having other types of glaucoma. In the POAG group, there were 38 patients, with a median IOP of 16 mm Hg (range 12–18). We were masked to the systemic comorbidities when the registry provided us data on those to whom FSII had also granted cost-free medication for HT, IHD, or DM according to the uniform national criteria.Results None of the patients with LTG had exfoliation syndrome. There was a female predominance, 81%, compared to 68% in high-tension POAG. Hypertension had been diagnosed in 34%, which is the same as in high-tension POAG. A total of 24% had IHD, which is the same as in the Finnish population registry. Diabetes mellitus was present in only 5%. In all groups, patients with LTG with systemic comorbidity were markedly older than those without.Conclusions In patients with LTG with median IOP 16 mm Hg (range 12–18), glaucomatous optic disc cupping and glaucomatous visual field defects probably developed independently of the systemic vascular comorbidity. However, the diagnostic criteria for HT, IHD, and DM used in the current study were based on the severity of stages set in the FSII system.

Purpose To study mortality among unselected Finnish patients with either primary open-angle glaucoma (POAG) or exfoliative glaucoma (EG) after a minimum follow-up of 7 years after enrollment.Methods A total of 344 patients with POAG and 155 patients with EG had received free medication for the treatment of glaucoma from the Finnish National Social Insurance Institution (FSII). The FSII operates national health insurance, which is compulsory for all Finnish citizens. To be granted free medication, the patient has to file an application with a certificate from an ophthalmologist. If the predefined criteria for glaucoma specified by the Finnish Parliament are met, full reimbursement for glaucoma medications is granted and the patient is listed in the registry of FSII. We reviewed the records of 519 consecutive patients who had been diagnosed with glaucoma and to whom free medication had been granted between June 2004 and December 2005. Patients with acute glaucoma or secondary glaucoma were excluded. Those with open angles were classified into POAG or EG. The quality of the ophthalmologists’ records was high. The Finnish Population Registry, a governmental institute, provided information on those patients who had died before January 2013.Results At enrollment, the groups with POAG and EG were comparable as regards sex: 66% female with POAG and 68% with EG. The patients with POAG were younger (median 68 years) than those with EG (median 74 years). By January 2013, 59 patients with POAG and 48 with EG had died. At death, the patients with POAG were younger (median 81.8 years) than those with EG (87.9 years). In both groups, the women lived longer than the men, but among patients with POAG, women and men died at a younger age than those with EG.Conclusions As has been reported previously, life expectancy of patients with EG was longer when compared to those with POAG. Higher death rate among patients with EG is explained by higher median age at baseline.

Purpose To compare ocular findings in eyes with primary open-angle glaucoma (POAG) and exfoliation glaucoma (EG) at the time of diagnosis when identical diagnostic criteria for glaucoma were applied.Methods We conducted a study on records of 519 consecutive, unselected patients with chronic glaucoma filing for cost-free medication from the Finnish National Social Insurance Institute (FSII). Fourteen cases were excluded for having other types of glaucoma. The documents were provided by eye hospitals or by licensed ophthalmologists. The criteria for glaucoma were set by the Parliament of Finland and applied by FSII. A total of 329 patients had POAG and 176 had EG. The main outcome measures were best-corrected visual acuity (BCVA), intraocular pressure (IOP), cup-to-disc ratio of the optic nerve head (C/D), and glaucomatous changes of the visual fields (VF).Results As regards sex, the 2 groups were comparable: 66% female with POAG and 68% with EG. The EG patients were older (mean ± SD 74 ± 8.6 years) vs POAG (68 ± 11.4 years). The EG eyes had slightly lower BCVA. The POAG eyes had mean intraocular pressure (IOP) 24 ± 5.4 mm Hg. A total of 12% in this group had highest IOP of less than 18 mm Hg (low-tension glaucoma [LTG]) but there were none of EG. All EG eyes had a mean IOP 28.3 ± 9.3 mm Hg. Among EG patients, 26% had unilateral disease, with a mean IOP of 33.7 ± 8.7 mm Hg, while the opposite eyes had a mean of 19 ± 3 mm Hg. There was not much difference in the C/D ratios of POAG and EG eyes and the VF profiles were similar.Conclusions At diagnosis, patients with EG were older than those with POAG and had higher mean IOP values. Among patients with POAG, there were 12% with LTG, but none among EG. A total of 26% among EG had unilateral disease with marked IOP asymmetry. The C/D and VF profiles were similar because the patients had been seen early in the disease course. Early recognition and lifelong most effective therapy of EG are strongly advocated.