Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.

[Catastrophic expenditure in children with visual impairment: a cross-sectional study with caregivers in Rio de Janeiro, Brazil].

Caring for a visually impaired child can affect the caregiver's income and, in turn, the family's. Catastrophic spending resulting from increased expenses and reduced income must be taken into account, whether due to unemployment, a reduction in the number of hours worked or the difficulty of entering or reentering the job market. Given this scenario, the main objective of this study was to estimate the catastrophic spending attributed to the caregiver of blind or low-vision children in reference centers for education for the blind, ophthalmology and child health located in the city of Rio de Janeiro, Brazil, identifying which factors are associated with a higher or lower prevalence of this expenditure.

Adherence of Brazilian Minors to the 24-Hour Movement Guidelines after In-Person School Return.

The levels of adequacy of movement behaviors after returning to in-person school activities following the COVID-19 pandemic are not yet well understood. This study aimed to assess the adherence of Brazilian minors to the recommendations of the 24-Hour Movement Guidelines (moderate to vigorous physical activity, recreational screen time, and sleep duration), as well as overall adherence to these guidelines, after the relaxation of COVID-19 social isolation measures and the resumption of in-person schooling. A cross-sectional study was conducted with parents or guardians (39 ± 7.

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling.

[Depression, anxiety, stress, and social support: a cross-sectional study with caregivers of visually impaired children in Rio de Janeiro, Brazil - Views-QoL Study].

We aimed to identify the reports of symptoms of depression, anxiety, and stress among caregivers of children without visual impairment, with low vision, and with blindness and their relationship with the degree of social, emotional, material, and affective support. This cross-sectional and multicenter study was conducted in the municipality of Rio de Janeiro, Brazil, from 2019 to 2020. A questionnaire was applied to obtain caregivers' sociodemographic and economic data.

Evaluation and monitoring of eye findings in children exposed to Zika virus during gestation: 3 years of follow-up.

Introduction: Congenital Zika syndrome (CZS) is a recently described disease. Our main objective was to evaluate and monitor, over 3 years, the ophthalmoscopic findings in children exposed to zika virus (ZIKV) during gestation.

Methods: This prospective observational study was conducted in Rio de Janeiro, Brazil, between April 2016 and May 2019.

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the gene. It causes bilateral pediatric cataract and hyperferritinemia without iron overload. The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent mutations in , the gene associated with autosomal recessive inheritance hereditary hemochromatosis.

Zika virus infection histories in brain development.

An outbreak of births of microcephalic patients in Brazil motivated multiple studies on this incident. The data left no doubt that infection by Zika virus (ZIKV) was the cause, and that this virus promotes reduction in neuron numbers and neuronal death. Analysis of patients' characteristics revealed additional aspects of the pathology alongside the decrease in neuronal number.

Survey of the Adequacy of Brazilian Children and Adolescents to the 24-Hour Movement Guidelines before and during the COVID-19 Pandemic.

The 24-Hour Movement Guidelines provide specific recommendations on movement behaviors for children and adolescents. The objective of this study was to verify the adequacy of children and adolescents to the guidelines for moderate to vigorous physical activity, recreational screen time, and sleep duration, and the overall adequacy to the guidelines, before and during the COVID-19 pandemic. A cross-sectional study was conducted with parents or guardians of children or adolescents from different regions of Brazil using a digital interview form including sociodemographic characteristics of families, moderate to vigorous physical activity, recreational screen time, and sleep duration before and during the pandemic.

Current practices and profiles of ophthalmologists involved in retinopathy of prematurity care in Brazil.

Retinopathy of prematurity (ROP) care in Brazil varies in availability of resources and infrastructure. A cross-sectional survey was conducted among ophthalmologists of the Brazilian ROP Group (BRA-ROP) to assess the profiles and practices of ophthalmologists involved in ROP care. A total of 78 responses of BRA-ROP participants (79%) were included.

Risk of adverse outcomes in offspring with RT-PCR confirmed prenatal Zika virus exposure: An individual participant data meta-analysis of 13 cohorts in the Zika Brazilian Cohorts Consortium.

Background: Knowledge regarding the risks associated with Zika virus (ZIKV) infections in pregnancy has relied on individual studies with relatively small sample sizes and variable risk estimates of adverse outcomes, or on surveillance or routinely collected data. Using data from the Zika Brazilian Cohorts Consortium, this study aims, to estimate the risk of adverse outcomes among offspring of women with RT-PCR-confirmed ZIKV infection during pregnancy and to explore heterogeneity between studies.

Methods: We performed an individual participant data meta-analysis of the offspring of 1548 pregnant women from 13 studies, using one and two-stage meta-analyses to estimate the absolute risks.

Acquired Hip Dysplasia in Children with Congenital Zika Virus Infection in the First Four Years of Life.

Acquired hip dysplasia has been described in children with cerebral palsy (CP); periodic surveillance is recommended in this population to prevent hip displacement and dislocation. Children with congenital zika syndrome (CZS) may present a spectrum of neurological impairments with changes in tonus, posture, and movement similar to children with CP. However, the relationship between CZS and hip dysplasia has not been characterized.

Visual Acuity alterations in heavily impaired Congenital Zika Syndrome (CZS) children.

Introduction: This study aimed to assess visual acuity (VA) in Congenital Zika Syndrome (CZS)-children to evaluate visual loss. To that end we evaluated 41 CZS - children, from Rio de Janeiro using Teller Acuity Cards.

Methods: To asses VA, we evaluated 41 CZS - children, from Rio de Janeiro using Teller Acuity Cards.

Evaluation of childhood cataract characteristics at a tertiary referral center.

Purpose: To examine the epidemiological characteristics of children undergoing cataract surgery at a referral center in Sao Paulo State, Brazil, as well as the facts surrounding treatment delays.

Methods: In this transversal observational study, 240 operated eyes from 178 children undergoing cataract surgery were reviewed. The following aspects were analyzed: epidemiological and clinical characteristics, parental observations, red reflex test, operated eye, and age at cataract diagnosis and surgery.

Retinal Toxicity Induced by Chemical Agents.

Vision is an important sense for humans, and visual impairment/blindness has a huge impact in daily life. The retina is a nervous tissue that is essential for visual processing since it possesses light sensors (photoreceptors) and performs a pre-processing of visual information. Thus, retinal cell dysfunction or degeneration affects visual ability and several general aspects of the day-to-day of a person's lives.

Portable wide-field digital imaging for screening of neonatal visual impairment causes in Rio de Janeiro, Brazil: a budget impact analysis.

Objective: To estimate the budget impact of portable wide-field digital imaging incorporation on screening neonatal causes of childhood blindness and visual impairment in Rio de Janeiro, Brazil.

Design: Budget impact analysis.

Setting: Rio de Janeiro, Brazil.

Anthropometric Parameters of Children with Congenital Zika Virus Exposure in the First Three Years of Life.

Little is known about the impact of congenital Zika virus (ZIKV) exposure on growth in the first years of life. In this prospective cohort study,201 ZIKV antenatally-exposed children were followed at a tertiary referral center in Rio de Janeiro, Brazil. Eighty-seven were classified as congenital Zika syndrome (CZS) patients and 114 as not congenital Zika syndrome (NCZS); growth parameters were described and compared between groups and with WHO standard growth curves.

Early Predictors of Poor Neurologic Outcomes in a Prospective Cohort of Infants With Antenatal Exposure to Zika Virus.

Background: Identify early predictors of poor neurodevelopment in infants with antenatal Zika virus (ZIKV) exposure.

Methods: Analysis of a prospective cohort of infants with antenatal ZIKV exposure confirmed by maternal or infant RT-PCR or IgM during the epidemic in Rio de Janeiro, Brazil. Clinical findings before 3 months of age were associated with Bayley-III Scales of Infant and Toddler Development conducted after 6 months of age.

Cost-Utility Analysis of Wide-Field Imaging as an Auxiliary Technology for Retinopathy of Prematurity Care in Brazil.

To evaluate the cost-utility of wide-field imaging (WFI) as a complementary technology for retinopathy of prematurity (ROP) screening from the Brazilian Unified Health System's perspective. ROP is one of the leading causes of avoidable childhood blindness worldwide, especially in middle-income countries. The current ROP screening involves indirect binocular ophthalmoscopy (IBO) by ROP expert ophthalmologists.

Brazilian guidelines on the frequency of ophthalmic assessment and recommended examinations in healthy children younger than 5 years.

Purpose: To provide guidance on the frequency and components of eye examinations for healthy children aged 0 to 5 years.

Methods: These guidelines were developed based on the medical literature and clinical experience of an expert committee. PubMed/Medline searches were performed, with selected publications not restricted to systematic reviews, randomized controlled trials, or observational studies.

Novel Mutation in Causing Pediatric Cataract and Microphthalmia.

Up to 25% of pediatric cataract cases are inherited, with half of the known mutant genes belonging to the crystallin family. Within these, crystallin beta B3 () has the smallest number of reported variants. Clinical ophthalmological and genetic-dysmorphological evaluation were performed in three autosomal dominant family members with pediatric cataract and microphthalmia, as well as one unaffected family member.

International Classification of Retinopathy of Prematurity, Third Edition.

Purpose: The International Classification of Retinopathy of Prematurity is a consensus statement that creates a standard nomenclature for classification of retinopathy of prematurity (ROP). It was initially published in 1984, expanded in 1987, and revisited in 2005. This article presents a third revision, the International Classification of Retinopathy of Prematurity, Third Edition (ICROP3), which is now required because of challenges such as: (1) concerns about subjectivity in critical elements of disease classification; (2) innovations in ophthalmic imaging; (3) novel pharmacologic therapies (e.

Ophthalmological manifestations in congenital Zika syndrome in 469 Brazilian children.

Purpose: To analyze the spectrum of ophthalmologic manifestations in a large sample of children with congenital Zika syndrome (CZS) in Brazil.

Methods: The medical records of infants born in the states of Pernambuco, Bahia, and Rio de Janeiro, Brazil, between December 2015 and December 2016 with clinical manifestations of CZS and positive reverse transcription polymerase-chain-reaction (RT-PCR) and/or serology for the Zika virus were reviewed retrospectively. Data were collected from the record of the first ophthalmological assessment, performed on admission.

Why Did ZIKV Perinatal Outcomes Differ in Distinct Regions of Brazil? An Exploratory Study of Two Cohorts.

The Zika virus (ZIKV) epidemic in Brazil occurred in regions where dengue viruses (DENV) are historically endemic. We investigated the differences in adverse pregnancy/infant outcomes in two cohorts comprising 114 pregnant women with PCR-confirmed ZIKV infection in Rio de Janeiro, Southeastern Brazil ( = 50) and Manaus, in the north region of the country ( = 64). Prior exposure to DENV was evaluated through plaque reduction neutralizing antibody assays (PRNT 80) and DENV IgG serologies.