Impact of Race on the Outcomes of Retinoblastoma Treated With Primary Enucleation: A Global Study of 1426 Patients.

Background: To evaluate the clinical presentation, pathological features and outcomes of retinoblastoma based on the race of origin in a global cohort of patients.

Methods: Retrospective collaborative study of 1426 patients who underwent primary enucleation for retinoblastoma.

Results: Patients were grouped into Caucasians (n = 231, 16%), Asians (n = 841, 59%), Hispanics (n = 226, 16%), Arabs (n = 96, 7%) and Others (Africans, African Americans, Indigenous Australians; n = 32, 2%) cohorts.

Treatment Outcomes and Definition Inconsistencies in High-Risk Unilateral Retinoblastoma.

Purpose: To compare the clinical outcomes of children with unilateral retinoblastoma (Rb) and high-risk histopathology features (HRHF) following upfront enucleation with/without adjuvant chemotherapy, and investigate cases locally considered non-HRHF but converted to a standardized HRHF definition.

Design: Retrospective multinational clinical cohort study.

Methods: Children with Rb who presented to 21 centers from 12 countries between 2011-2020, and underwent primary enucleation were recruited.

Integrating Genetics in Glaucoma Screening.

Prcis: As additional glaucoma genes are identified and classified, polygenic risk scores will be refined, facilitating early diagnosis and treatment. Ensuring genetic research is equitable to prevent glaucoma blindness worldwide is crucial.

Purpose: To review the progress in glaucoma genetics over the past 25 years, including the identification of genes with varying contributions to the disease and the development of polygenic risk scores.

Making glaucoma genetic studies more diverse.

Although the blinding eye disease glaucoma is more common in people of African ancestry, previous genetic studies predominantly involved European subjects. In this issue of Cell, O'Brien et al. report a genome-wide association study for glaucoma in individuals of African ancestry, showing overlap with European studies and refining an African polygenic risk score.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific GATA2 regulatory region that includes two enhancers and one silencer, and from noncoding single-nucleotide variants (SNVs) within the silencer. Some SNVs impair binding of NR2F1 to the silencer in vitro and in vivo and attenuate in vivo enhancer reporter expression in FBMNs.

Cost Analysis of Orthoptist-Led Neurofibromatosis Type 1 Screening Clinics.

Purpose: To conduct a costing study comparing orthoptist-led with consultant-led clinics screening for optic pathway gliomas (OPGs) in children with neurofibromatosis Type 1 (NF1) attending the Royal Children's Hospital (RCH), Melbourne.

Methods: Patients with NF1 examined in the orthoptist-led NF1 screening clinic and/or consultant-led clinics during the study period were identified. The workflow management software Q-Flow 6® provided data documenting patient's time spent with the orthoptist, nurse, and ophthalmologist.

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and ethnically diverse families affected by congenital glaucoma, a severe form of glaucoma affecting children.

Pathogenic genetic variants identified in Australian families with paediatric cataract.

Objective: Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variants likely to be causative of disease in an Australian patient cohort.

Methods And Analysis: Sixty-three reported isolated cataract genes were screened for rare coding variants in 37 Australian families using genome sequencing.

Danish heritable retinoblastoma survivors' perspectives on reproductive choices: "It's important for me, not to pass on this condition".

Despite reporting an overall normal life, survivors of heritable retinoblastoma face numerous physical and psychosocial issues. In particular, reproductive decision-making is often complex and difficult. This study aims to examine survivors' reflections on passing on heritable retinoblastoma to their children, how survivors approach their reproductive choices, and how the healthcare system can optimize counseling and support.

Quality of life in children with glaucoma: a qualitative interview study in Australia.

Objective: Childhood glaucoma is a chronic vision-threatening condition that may significantly impact an individual's psychosocial well-being. There is a paucity of literature investigating the quality of life (QoL) in children with glaucoma. The aim of this study was to investigate and report on the QoL issues encountered by children with glaucoma.

Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis.

Background: Survivors with heritable retinoblastoma (RB) face a high risk for second primary cancer and RB in their children. Knowledge of heredity can support second cancer surveillance, convey reproductive options or early diagnosis of RB in their offspring. Currently, all newly diagnosed Danish patients with RB are offered genetic testing, as opposed to a minority of survivors diagnosed before available DNA testing.

The Caregiver Experience in Childhood Glaucoma: An Interview Study.

Purpose: To investigate and report on the quality-of-life (QoL) issues experienced by caregivers of individuals with childhood glaucoma.

Design: Exploratory, qualitative study.

Participants: Thirty-five caregivers of individuals with childhood glaucoma (defined as disease onset before 18 years of age) recruited from the Australian and New Zealand Registry of Advanced Glaucoma.

Defining High-risk Retinoblastoma: A Multicenter Global Survey.

Importance: High-risk histopathologic features of retinoblastoma are useful to assess the risk of systemic metastasis. In this era of globe salvage treatments for retinoblastoma, the definition of high-risk retinoblastoma is evolving.

Objective: To evaluate variations in the definition of high-risk histopathologic features for metastasis of retinoblastoma in different ocular oncology practices around the world.

Establishing risk of vision loss in Leber hereditary optic neuropathy.

We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision loss among different LHON mutations, sex, age at onset, and mitochondrial haplogroup. We identified 96 genetically unrelated LHON pedigrees, including 56 unpublished pedigrees, and updated 40 previously known pedigrees, comprising 620 affected individuals and 4,948 asymptomatic carriers. The minimum prevalence of vision loss due to LHON in Australia in 2020 was one in 68,403 individuals.

Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: 'That is exactly what I have been missing'.

Objective: To explore living with heritable retinoblastoma, specifically survivors' perceived role of regular follow-up at a retinoblastoma survivorship clinic.

Methods And Analysis: Adult survivors of heritable retinoblastoma were recruited from the Retinoblastoma Survivorship Clinic, Aarhus University Hospital. Ten survivors participated in individual explorative, semistructured interviews.

Quality of Life in Adults with Childhood Glaucoma: An Interview Study.

Purpose: To explore and report on the quality-of-life (QoL) issues encountered by adults with childhood glaucoma.

Design: Exploratory qualitative study.

Participants: Forty-seven participants with childhood glaucoma (defined as disease onset <18 years) recruited from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG).

Sex, gender, and retinoblastoma: analysis of 4351 patients from 153 countries.

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.

Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.

Purpose: To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort.

Design: Retrospective clinical and molecular study.

Participants: All individuals with childhood glaucoma (diagnosed 0 to <18 years) and early onset glaucoma (diagnosed 18 to <40 years) referred to a national disease registry.

Parent satisfaction and acceptability of telehealth consultations in pediatric ophthalmology: initial experience during the COVID-19 pandemic.

Telehealth in pediatric ophthalmology has predominantly been utilized and reported in the setting of clinician-to-clinician opinion or store-and-forward of images, particularly in the diagnosis and management of retinopathy of prematurity (ROP). We present our initial experience of using a telehealth model of care to deliver real-time specialist pediatric ophthalmology services during the COVID-19 pandemic. Over a 5-week period, parents were invited to complete an anonymous survey following a telehealth ophthalmology consultation for their child.

Adherence to home-based videogame treatment for amblyopia in children and adults.

: Home-based videogame treatments are increasingly popular for amblyopia treatment. However, at-home treatments tend to be done in short sessions and with frequent disruptions, which may reduce the effectiveness of binocular visual stimulation. These treatment adherence patterns need to be accounted for when considering dose-response relationships and treatment effectiveness.

Improving parents' knowledge of early signs of paediatric eye disease: A double-blind randomized controlled trial.

Importance: Educating parents to recognize signs of eye disease and consult a healthcare professional is critical to timely diagnosis, intervention and outcomes.

Background: We evaluate the effectiveness of an eye-health information pamphlet on parents' level of concern and help-seeking intention should they hypothetically observe leukocoria or strabismus in their child.

Design: Double-blind, randomized controlled trial conducted at a metropolitan antenatal outpatient clinic.