Visual Impairment In Children Research Articles

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to disease burden, characterising their impact on gene function and phenotype remains challenging. Furthermore, little is known of the nature and extent of their contribution to AMC phenotypes. We report two families with variants in or near MAB21L2, a gene where genetic variants are known to cause AMC in humans and animal models. The first proband, presenting with microphthalmia and coloboma, has a likely pathogenic missense variant (c.338 G > C; p.[Trp113Ser]), segregating within the family. The second individual, presenting with microphthalmia, carries an ~ 113.5 kb homozygous deletion 19.38 kb upstream of MAB21L2. Modelling of the deletion results in transient small lens and coloboma as well as midbrain anomalies in zebrafish, and microphthalmia and coloboma in Xenopus tropicalis. Using conservation analysis, we identify 15 non-coding conserved elements (CEs) within the deleted region, while ChIP-seq data from mouse embryonic stem cells demonstrates that two of these (CE13 and 14) bind Otx2, a protein with an established role in eye development. Targeted disruption of CE14 in Xenopus tropicalis recapitulates an ocular coloboma phenotype, supporting its role in eye development. Together, our data provides insights into regulatory mechanisms underlying eye development and highlights the importance of non-coding sequences as a source of genetic diagnoses in AMC.

Natural history of cerebral visual impairment in children with cerebral palsy.

https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16096

Knowledge of Cerebral Visual Impairment (CVI) in Children among Eye Care Professionals in Selangor and Kuala Lumpur, Malaysia

Objective: Cerebral Visual Impairment (CVI), a brain-based visual disorder that affects neural networks that process incoming visual information throughout the brain, poses challenges in diagnosis and managing visual impairment in children. With the prevalence rise in CVI cases among children, there is a growing demand for ophthalmologists and optometrists to address these conditions, emphasising the importance of improving knowledge and awareness for better visual rehabilitation. This study intends to quantify the level of understanding of CVI in children among eye care professionals in Selangor and Kuala Lumpur, Malaysia.Material and Methods: Two hundred thirty registered eye care professionals, including ophthalmologists and optometrists across Selangor and Kuala Lumpur, Malaysia, participated in this cross-sectional web-based survey. A standardised questionnaire was created through Google Forms and distributed via social media platforms between April and June 2022.Results: The finding showed that the eye care professionals have significantly basic knowledge regarding CVI in children (x2=369; df=2; p-value≤0.01). Most respondents correctly identified variable loss of vision, visual field defects, and abnormal behaviour as clinical features of CVI in children. Additionally, over half of the respondents selected magnetic resonance imaging (MRI) as the appropriate investigation choice.Conclusion: These findings indicate that eye care professionals have basic knowledge and awareness of CVI in children. More research is needed to enhance knowledge and raise awareness about CVI in children among eye-care professionals.

Refractive error and ocular alignment in school-aged children from low-income areas of São Paulo, Brazil

BackgroundUncorrected refractive errors and amblyopia are reported as the two main causes of childhood visual impairment and blindness worldwide. Our purpose was to evaluate refractive status, ocular alignment and effective refractive error coverage (eREC) of school-aged children from low-income areas of Sao Paulo city, Brazil.MethodsData from the “Ver na Escola” Project were used for the current study. Children enrolled in the selected schools had an ophthalmic exam including eye alignment assessed by cover test, automatized and subjective dynamic and static refraction. The associations of demographic variables with occurrence and magnitude of refractive errors and eREC were investigated by multiple logistic regressions and multilevel mixed effect models.ResultsA total of 17,973 children (51.12% females) with mean ± sd age 8.24 ± 3.54 years old examined from July 2018 to July 2019, were included in the study. Most of the participants (73%) showed orthoposition of the visual axis for both distance and near. Heterophoria was found in about 25% of participants (N = 4,498), with 71.7% of them (N= 3,222) classified as exophoria. Less than 2% (N = 232) showed strabismus, most of them (N = 160) esotropia. Overall, 1,370 (7.70%) of participants had myopia and 577 (3.24%) had hyperopia. Age was found to be significantly associated with increasing static subjective refraction spherical equivalent (Coefficient: -0.18; 95% Confidence Interval (CI): -0.21 to -0.16; p < 0.001). Female sex (Odds Ratio (OR) = 1.13; 95%CI: 1.01–1.27; p = 0.027) and older age (OR = 1.17; 95%CI: 1.16–1.19; p < 0,001) were significantly associated with myopia diagnosis. Older age decreased the odds of hyperopia (OR = 0.95; 95%CI: 0.93–0.98; p < 0.001). The overall effective refractive coverage was 51.76% and was significantly associated with age group, ranging from 32.25% in children aged 3 to 7 years to 61.35% in children aged 8 to 12 years.ConclusionsMost children have shown eye alignment for both distance and near assessments and no refractive error. Myopia was observed in 7.70% of the population and it was associated with older age and female sex. Hyperopia was observed in 3.24% and was associated with younger age. The overall eREC was 51.76%, significantly associated with age.

Refractive errors, amblyopia risk factors and vision screening in children aged 7–10 years in Aotearoa New Zealand

ABSTRACT Clinical relevance Vision screening is important for detecting undiagnosed vision conditions that are common in school-aged children. However, current vision screening protocols are poor at detecting vision conditions that are most common in the Aotearoa New Zealand paediatric population. Background Uncorrected refractive error and amblyopia are the most common causes of visual impairment in children. The most appropriate vision screening method depends on the refractive error profile of the population. This study aimed to: estimate the prevalence of refractive errors and amblyopia risk factors among children living in Aotearoa New Zealand; describe previous participation in preschool vision screening and determine the diagnostic accuracy of potential screening methods. Methods Children aged 7–10 years received comprehensive eye examinations, including cycloplegic refraction, in their school. Eye examination results were assessed for refractive error and amblyopia risk factors. The sensitivity and specificity of individual vision tests for detecting any vision conditions was calculated to assess the most effective tests for vision screening. Results Eye examinations were completed for 237 children and cycloplegic refraction data was available for 220 of these children. Significant refractive error (need for glasses) was detected in 23.6% of children (7.7% myopia, 7.7% hyperopia, 15.0% astigmatism). Amblyopia risk factors were detected in 9.1% of children. Preschool vision screening had been completed by 78.5% of children. Distance visual acuity screening alone had a sensitivity of 39% for detecting vision conditions, with addition of the Spot Vision Screener improving sensitivity to 65%. Conclusion Astigmatism is the most frequent refractive error among children aged 7–10 years living in Aotearoa New Zealand. Distance visual acuity screening alone is ineffective in detecting refractive error in children in Aotearoa New Zealand. Further research investigating refractive errors across the paediatric population in Aotearoa New Zealand is required to determine the optimal timing and appropriate protocols for school-aged vision screening.

Prevalence of visual abnormalities detected through paediatric vision screening in Queensland, Australia.

Vision screening programs can provide epidemiological information regarding visual impairment in children. This study aims to report the characteristics of visual abnormalities diagnosed through the Primary School Nurse Health Readiness Program (PSNHRP) in Queensland, Australia. A retrospective review of vision screening records from the PSNHRP between January 2017 and December 2020 was undertaken. Children aged between 4 and 7 who underwent vision screening were included for review. Children with a visual acuity of worse than 6/9-1 using the Parr 4 m letter-matching chart or those who failed the SPOT Vision Screener were referred to an optometrist or ophthalmologist for review. 164 890 children underwent vision screening. 12148 children failed visual screening (7.4%) and were referred for an eye assessment. 6011 (69.4%) of the 8659 children who attended ophthalmic review had a confirmed visual abnormality. Of 164 890 screened children, 1187 (0.72%) were confirmed to have anisometropia, 3843 (2.33%) had refractive error, 194 (0.12%) had strabismus, 755 (0.46%) had anisometropic amblyopia, 136 (0.08%) had strabismic amblyopia, and 1356 (0.82%) had an unspecific abnormality. There was no statistically significant difference in the age at screening between any visual abnormality (p = 0.94). Anisometropia, refractive error, and strabismus were significantly more common in females than males (p = 0.03, p < 0.01, and p = 0.03 respectively), whereas anisometropic amblyopia was more common in males (p < 0.01). We report the prevalence of visual abnormalities detected through the PSNHRP vision screening program. Identification of medical or socioeconomic risk factors that are likely to be associated with visual abnormalities can help to optimise vision screening programs.

Epidemiology of Myopia: Prevalence, Risk Factors and Effects of Myopia.

Myopia is the most common cause of visual impairment in children and young adults. In order to assess the consequences for society, it is necessary to know temporal trends in prevalence, incidence and associated factors in childhood and adolescence, as well as the rate of myopia progression, as based on epidemiological research. This paper presents a literature review of publications from 2020 up to March 2024, supplemented by other relevant publications. The prevalence of myopia in children and adolescents in Germany is almost stable and is significantly lower than in Asia. The development of myopia is influenced by outdoor activity, parental myopia, genetics and near work, while insufficient time spent outdoors in childhood is a significant and controllable risk factor for myopia-related complications such as myopic maculopathy, glaucoma, and retinal detachment.

Natural history of cerebral visual impairment in children with cerebral palsy.

To longitudinally evaluate the natural history of cerebral visual impairment (CVI) in children with cerebral palsy (CP) and identify which early visual signs or symptoms are associated with cognitive visual disorders (CVDs) at school age. Fifty-one individuals with CP and CVI underwent an ophthalmological, oculomotor, and basic visual function evaluation at three time points: T0 (6-35 months old); T1 (3-5 years old); and T2 (≥6 years old). We also performed a cognitive visual evaluation at T2. Logistic regression fitted using a generalized estimation equation (binary) and cumulative link models (ordinal) were used to model the outcomes of interest. Ophthalmological deficits were stable over time, except for ocular fundus abnormalities (T1-T0, p = 0.01; T2-T1, p = 0.02; T2-T0, p < 0.01) and strabismus, whose frequency increased with age (T2-T0, p= 0.02 with T2-T0, p = 0.05). Conversely, fixation (T1-T0, T2-T0, p < 0.01), smooth pursuit (T2-T1, T2-T0, p < 0.01), saccades (T1-T0, T2-T1, T2-T0, p < 0.01), as well as visual acuity, contrast sensitivity, and visual field (T1-T0, T2-T0, p < 0.01) all improved over time. Early oculomotor dysfunction was associated with CVD at T2. Although a diagnosis of CVI was confirmed in all children at each time point, several visual signs and symptoms improved over time; in some cases, they reached complete recovery at T1 and T2. These results emphasize the 'permanent' but 'not unchanging' nature of the CVI associated with CP during development.

Prevalence of Amblyogenic Risk Factors Among School Children in India Using the Spot Vision Screener.

Amblyopia is a common cause of preventable visual impairment in children, affecting 1% to 6% globally. This study assesses amblyopia prevalence and risk factors among school children in rural Telangana, India, using the Spot Vision Screener (Welch Allyn, Inc., Skaneateles Falls, New York, USA), a portable, noninvasive device recommended for automated vision screening. A cross-sectional study was conducted on 714 schoolchildren aged 5-10 years. Screening was performed using the Spot Vision Screener, evaluating refractive errors, ocular alignment, and other amblyopia risk factors. Children identified with potential amblyogenic factors were referred for comprehensive ophthalmological evaluation to confirm diagnosis. Out of 714 children screened, 84 were referred by the Spot Vision Screener for further evaluation. Subsequent examination by ophthalmologists confirmed amblyopia in 65 children, resulting in a prevalence of 9.10%. Myopic refractive error was the most prevalent (69.23%), followed by astigmatism (21.53%) and hypermetropia (9.23%) among amblyopia cases. The Spot Vision Screener proved to be a reliable tool for identifying amblyopia risk factors in school children, facilitating early detection and referral for appropriate management. This study underscores the importance of implementing effective vision screening programs in rural settings to mitigate preventable childhood blindness.

Quantitative patterns of visual impairment and recovery in children with brain injury.

Brain injury can cause many distinct types of visual impairment in children, but these deficits are difficult to quantify due to co-morbid deficits in communication and cognition. Clinicians must instead rely on low-resolution, subjective judgements of simple reactions to handheld stimuli, which limits treatment potential. We have developed an interactive assessment program called the Visual Ladder, which uses gaze-based responses to intuitive, game-like tasks to address the lack of broad-spectrum quantified data on the visual abilities of children with brain injury. Here, we present detailed metrics on eye movements, field asymmetries, contrast sensitivity, and other critical visual abilities measured longitudinally using the Ladder in hospitalized children with varying types and degrees of brain injury, many of whom were previously considered untestable. Our findings show which abilities are most likely to exhibit recovery and reveal how distinct patterns of task outcomes defined unique diagnostic clusters of visual impairment.

Prevention of vision disorders at school age: view of secondary school teachers on the problem

Background. The relevance of the study is due to the importance of maintaining full vision functions from childhood, which allows for having healthy visual perception for a quality life, learning and work capacity in adolescence and adulthood. The problem is gaining global importance, because according to the forecasts of international experts, the spread of ophthalmic pathology in 2050 will reach such a scale that almost a third of the planet’s population will have impaired vision, with most of cases diagnosed already in childhood. Scientific studies reveal an increase in the frequency of visual impairment among school-aged children. Thus, 8–10 % of the first-graders are diagnosed with ophthalmic pathology, and upon completion of schooling, this indicator can increase to 30–50 %. The purpose was to study the awareness of teachers and lecturers of secondary educational institutions (schools, lyceums) regarding the problems of visual impairment among schoolchildren, their attitude to the problem and willingness to participate in preventive measures. Materials and methods. The materials for the research were the results of a sociological survey of educators of secondary educational institutions from all regions of Ukraine (lecturers, teachers at schools and lyceums), a total of 6,215 questionnaires were subject to analy­sis. The tool for conducting sociological research was the deve­loped Questionnaire of secondary school educators regarding their awareness and willingness to participate in preventive programs to preserve eyesight from childhood. The procedure for filling out the questionnaire included an interview with an interviewer, who verbally informed about the purpose, tasks of sociological research, and its anonymity. Only after obtaining preliminary voluntary verbal consent to participate in the study, respondents were offered to proceed to filling out the questionnaire, which took an average of 15–20 minutes. The research methods were sociological survey, analytical-synthetic, medical-statistical methods, in particular the latter was used to calculate the representativeness and reliability of the survey results. Results. The results of the study prove the importance of the participation of secondary school educators in measures to prevent impairment of visual functions in school-aged children. Despite the high readiness of lecturers and secondary school teachers to engage in preventive activities, their awareness of preventing visual impairment among schoolchildren was found to be insufficient, as was the level of preventive work of medical personnel in schools. It was found that most educators are convinced that a school education worker should be aware of the signs of visual impairment in children (90.46 ± 0.37 %), participate in preventive measures and be familiar with the hygienic norms of visual stress in children (86.39 ± 0.43 %). Most respondents expressed the feasibility of introducing regular systematic supervision of vision functions in school-aged children (99.40 ± 0.10 %) and supporting the implementation of state preventive programs to preserve vision from childhood in Ukraine (97.38 ± 0.20 %), self-critically recognizing the need for informational support regarding the detection of signs and symptoms of these diseases in children (71.70 ± 0.57 %). Conclusions. Visual impairments in children of different ages are of great medical and social importance, as they affect the formation of disorders of socialization and human performance. The results of the study open the prospect of involving secondary school educators in the activities of interdisciplinary comprehensive programs to prevent the development of ophthalmic pathology among school-aged children. The search for effective ways of informational support for educators on the issues of modern preventive technologies, risk factors for the formation of visual impairments in schoolchildren in order to prevent the formation of stigma about children with disabilities and visual impairments in their environment requires scientific justification.

Childhood visual impairment causes and barriers to accessing eye care: A suggested approach for Africa.

Childhood vision impairment (VI) has a significantly harmful effect on both health and social outcomes. To assess the causes of childhood VI, to determine obstacles to accessing eye care services and to develop a strategy for the childhood eye care system in African nations. This systematic review was conducted by searching several online databases, including; Scopus, PubMed, ProQuest, Web of Science, Google Scholar, Ebsco and Medline. They focussed on articles available between 2003 and 2023. These studies were conducted to evaluate the causes of childhood VI and to assess obstacles to accessing eye care services in African countries. The main causes of childhood VI in African nations can be avoided with timely diagnosis and an appropriate management strategy. The leading obstacles to accessing childhood eye care services were a lack of availability, accessibility and affordability. In addition to these barriers, we found that there are concerns with quality of services, primary health care system, geographic barriers, incorrect health beliefs, inappropriate parental perception, a lack of knowledge, attitudes and inadequate practices related to paediatric eye care. The main causes of childhood VI were uncorrected refractive error (RE), amblyopia, cataract and corneal opacities that can be avoided with timely diagnosis and an appropriate management strategy. While the main obstacles to accessing childhood eye care services were a lack of availability, accessibility, affordability and healthcare system.Contribution:The recommended strategy for childhood eye-care services includes models for delivery and training.

Protocol for scoping review: Instruments for assessing vision-specific health-related quality of life in children and adolescents with visual impairment.

Childhood visual impairment (VI) is less common than in adults, but research has demonstrated that it can have significant long-term negative impacts on the health-related quality of life (HR-QoL) of children and adolescents. Unfortunately, there is currently a lack of vision-specific instruments available for accurately assessing HR-QoL in children and adolescents with VI, particularly in resource-limited settings. The objective of this scoping review is to methodically evaluate the evidence pertaining to (1) the accessibility and usage of instruments specifically designed to assess HR-QoL in children and adolescents who have VI, (2) summarise studies on HR-QoL in children and adolescent with VI, and (3) describe the psychometric properties of vision-specific instruments used for assessing HR-QoL in children and adolescents with VI. The review will be conducted in accordance with the Joanna Briggs Institute (JBI) guideline (2020) for scoping reviews, utilizing frameworks by Arksey and O’Malley, and methodological enhancements suggested by Levac (2010). A systematic search will be performed through various databases, including PubMed, Science Direct, Scopus, Web of Science, and EBSCOhost, to identify peer-reviewed articles published in English from inception until 31 December 2023. The EBSCOhost platform will include several databases, such as Academic Search Complete, APA PsycINFO, Health Source-Consumer Edition, Health Source: Nursing/Academic Edition, and Open Dissertations. The extracted data will be analysed narratively using QualCoder 1.9 version, and the study’s findings will be reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). The researchers anticipate that the literature will assist in exploring and relating various types of HR-QoL tools used globally. This review’s conclusion will help researchers ascertain research gaps in vision-related QoL instruments based on different economies, countries, and environments. This will further aid researchers in planning and developing tools suitable for African contexts and languages.

Successful treatment of cortical visual impairment in children using anti-amblyopia treatment despite the absence of amblyopia: a case report

BackgroundCortical visual impairment (CVI) is a verifiable visual dysfunction that cannot be attributed to disorders of the anterior visual pathways or any potentially co-occurring ocular impairment. Given the limited knowledge on the most effective interventions for visual impairment resulting from CVI, this case report provides valuable insights into an example of successful implementation of anti-amblyopia therapy in a patient with CVI.Case presentationThis case report presents a 5-year-old girl with CVI secondary to hypoxic-ischemic injury, resulting in visual impairment, dyspraxia, and abnormal visual evoked potential testing. The girl did not suffer from amblyopia, there was no evidence of relevant refractive errors or strabismus, so visual pathway damage was the cause of her visual deficit. Nevertheless, the patient underwent anti-amblyopia therapy and showed significant improvement in visual acuity after 12 months of treatment. The improvement, resulting from visual stimulation, was due to a good functional recovery by a better usage of the damaged visual pathways. The therapy included prescribing corrective glasses and implementing secondary occlusion of the better eye for 4 months, which was protracted for another 4 months, leading to further improvements in visual acuity.ConclusionsThe case report shows that addressing even minor refractive errors and implementing anti-amblyopia therapy can significantly improve vision in children with CVI, even without co-existing amblyopia. It also highlights the importance of early intervention and multidisciplinary rehabilitation in children with CVI, focusing on motor and cognitive skills. Additionally, it emphasizes the need for further research to establish evidence-based practice standards for improving vision in children with CVI.

Assessment of oral health status and treatment needs among visually impaired children in Vadodara city: An observational study

ABSTRACT Background: Maintaining optimal oral health is crucial for all children, but it holds particular significance for visually impaired children (VIC). Neglecting oral health can lead to a myriad of issues such as dental caries, gum disease, traumatic dental injuries (TDI), and even systemic health problems. Therefore, tailored interventions are essential to ensure their well-being and life quality. Aim: The current research aimed to assess the oral health status and treatment needs among VIC. Materials and Methods: The cross-sectional survey was conducted on 300 VIC in Vadodara city between September 2022 and December 2022. The oral examination was done in the respected school in the daylight with a normal sitting chair. Oral health status was checked according to the World Health Organization criteria (2013). Malocclusion was checked according to Angle’s classification of malocclusion. Descriptive statistical analysis was used. Results: The prevalence of dental caries was found to be 65%. 70% of children showed periodontal condition. TDIs among VICs were 40%. There is a high prevalence (91%) of Class I malocclusion. Most of the children require prompt treatment. Conclusion: The study reveals alarming dental health issues among VIC in Vadodara. With 65% experiencing dental caries, 70% displaying periodontal conditions, and 40% suffering from TDI, the oral health challenges are significant. Furthermore, a striking 91% exhibit Class I malocclusion. These findings underscore an urgent need for comprehensive dental care and tailored interventions to address the substantial oral health disparities in this vulnerable population. Immediate attention and specialized treatment plans are crucial to improving their overall well-being and quality of life.

Prevalence and Causes of Visual Impairment and Blindness Among Students of Blind Schools of Bihar, India

Aim: Visual impairment and blindness are serious public health issues, especially in developing countories, like India. Data on causes of childhood visual impairment and blindness in Bihar are limited. The aim of this study was to determine the leading causes of visual impairment and blindness in blind schools of Bihar Study design: A cross sectional study was done in seven blind schools of Bihar Methods: Seven blind schools were visited after taking permission from principal. Written informed consent from parents was taken. Detailed ocular and systemic examination was done for all 218 students. Comprehensive eye examinations were performed, including distance visual acuity, anterior and posterior segment examinations, refraction, color vision, and visual field testing. Anatomical and etiological categorization of causes of visual impairment/Blindness was done. Results: A total 218 students were examined. 90.82% of students were blind and 9.17% severely visually impaired. Major anatomical causes of visual impairment and blindness were Microphthalmos (24.31%), Anophthalmos (23.39%), Optic Atrophy (9.63%) and Corneal Scar (7.80%). Etiologically the most common cause was of unknown etiology followed by postnatal factors. Preventable or treatable causes, such as glaucoma, cataract, and refractive errors, represented 22.48% of the cases Conclusion: Blindness and Low vision due to congenital ocular conditions affecting whole globe was the most common cause, further population based studies are needed to know the exact magnitude of problem and to make strategies to decrease the incidence. There is a need to strengthen current primary preventions strategies while tertiary referral centers, Low Vision setups, awareness program regarding Low Vision, special education, rehabilitation, ocular disability benefits and many more things need to be set up in the different health zones of the state to manage childhood preventable and avoidable blindness.

Retrospective investigation of improvements in functional vision for adolescent students with cerebral vision impairments in a specialist residential school and college setting

Cerebral and/or cortical vision impairment (CVI) is the leading cause of childhood vision impairment in the Global North. Previous studies have demonstrated that the functional vision of children with CVI can develop over time, but evidence for the effectiveness of interventions is still in its infancy. In this study, we retrospectively reviewed student records from a specialist residential school and college in the United Kingdom that had implemented an evidence-based approach to assessment and intervention for adolescent students with CVI called the CVI Range. The outcome of CVI Range assessments were recorded annually over a 5-year period, and potential predictor variables such as measures of visual acuity and presence of conditions such as cerebral palsy and seizure disorders were recorded as part of standard practice within the service. A total of 73 annual assessments were analysed from a total of 24 students between the ages of 9 and 25 years old. We used a mixed model for repeated measures approach to reveal a significant fixed effect of time on functional vision that equated to a linear increase of 0.78, 95% CI [0.60, 0.97] in CVI Range Rating 2 for each year of participation on the programme. The mixed effects models also revealed significant interindividual differences in functional vision, which could be partly explained by a significant negative effect of acuity and by a joint positive effect of nystagmus and time, but not by age. These findings demonstrated that significant improvements in functional vision are still possible for students with CVI long after the accepted sensitive period of neuroplasticity in the visual cortex. Further studies incorporating research designs appropriate for evaluating complex interventions are required to determine which individual and contextual characteristics are valid and reliable predictors of improvements in functional vision for young people with CVI.

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations

PurposeBilateral pediatric cataract (BPC) is one of the most common causes of childhood visual impairment and blindness worldwide. A significant percentage of pediatric cataracts are caused by genetic alterations. We aim to characterize the set of genes and variants that cause BPC in the Israeli and Palestinian populations and to assess genotype-phenotype correlation.MethodsRetrospective study in a multidisciplinary center for visual impairment, located in a tertiary medical center. Medical charts of families who underwent genetic counseling because of BPC in a family member were reviewed. Clinical characteristics and genetic tests results were obtained from medical records of affected subjects.ResultsTwenty-two families (47 patients) underwent genetic counseling and completed genetic testing. Causative variants were identified in 18/22 (81.8%) of the families, including 3 novel variants. Genetic testing used included mainly panel for congenital cataracts and whole exome sequencing. Eleven families performed genetic testing with the intention of future pregnancy planning. Main causative genes identified were crystalline genes followed by transcription factor genes. BCOR gene variants were associated with persistent fetal vasculature (PFV) cataract in two of three families.ConclusionsCombined molecular techniques are useful in identifying variants causing pediatric cataracts and showed a high detection rate in our population. BCOR gene variants might be associated with PFV type of cataracts. The study of pathogenic variants may aid in family planning and prevention of pediatric cataracts in future pregnancies. Additionally, in certain cases, it assists in diagnosing non-suspected syndromic types of pediatric cataracts.

Prevalence and characteristics of amblyopia, strabismus, and refractive errors among patients aged 3–16 years in Shanghai, China: a hospital-based population study

BackgroundFunctional visual impairments in children are primarily caused by amblyopia or strabismus. This study aimed to determine the prevalence and clinical profile of amblyopia and strabismus among individuals aged 3–16 years in Shanghai, China.MethodsFrom February 2023 to February 2024, this hospital-based, cross-sectional study included data of children who visited the Ophthalmology Department of Shanghai General Hospital. Comprehensive ocular examinations included visual acuity measurement after cycloplegic refraction, slit lamp examination, cover test, and dilated fundus examination. Descriptive statistics were performed to estimate the proportion and clinical characteristics of amblyopia and strabismus.ResultsA total of 920 children were enrolled in our study. Among them, 223 (24.24%) children were identified as amblyopia. Unilateral amblyopia occupied 57.85%, and bilateral amblyopia occupied 42.15%. Most participants were within the age range of 5–10 years (75.97% for unilateral amblyopia, and 70.21% for bilateral amblyopia). Anisometropia was the primary cause of unilateral amblyopia (68.99%). Most amblyopic children have high hyperopia (38.76% for unilateral amblyopia, and 39.89% for bilateral amblyopia). 30 (3.26%) children were diagnosed with strabismus, and 19 (63.3%) of them were aged 5–10 years. Seven of the children had both strabismus and amblyopia.ConclusionThe proportion of patients with amblyopia and strabismus was determined as 24.24% and 3.26% in our study. Anisometropia was the leading cause of unilateral amblyopia, whereas high hyperopia was a crucial refractive error in the amblyopic population. These findings shed light on further longitudinal studies targeting the age-related changes in amblyopia, strabismus and refraction errors. Therefore, efforts should be made to manage uncorrected refractive errors, amblyopia, and strabismus among children in Shanghai.

Prevalence of Visual Impairment in Children with Autism Spectrum Disorder: A Mini Review

The association between Visual Impairment (VI) and Autism Spectrum Disorder (ASD) remains an important research topic among children suffering from developmental delays and disabilities. The objective of this mini review was to evaluate previous literature on prevalence and etiology of visual impairment, frequency of visual impairment and types of refractive errors associated with autism in children. Previous researches on ASD found that the visual impairment is one of the major factors in autistic children. Hence measurement of vision screening in autism disorder is necessary for better explanation of the problem. The etiologies of visual impairment in autistic children were associated with refractive error and strabismus. Identification of refractive error in ASD children and providing them suitable corrective lenses may improve their visual functions and help in their daily activities. With these findings in mind, there is an urgent need to investigate further in this area and developed more detailed research. The findings would help optometrist, ophthalmologist in understanding types of visual impairment in autism school children.