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Behavioral Sciences (Basel, Switzerland) Aug 2023Children with prosopagnosia, also known as face blindness, struggle to recognize the faces of acquaintances, which can have a negative impact on their social... (Review)
Review
Children with prosopagnosia, also known as face blindness, struggle to recognize the faces of acquaintances, which can have a negative impact on their social interactions and overall functioning. This paper reviews existing research on interventions for children with prosopagnosia, including compensatory and remedial strategies, and provides a summary and comparison of their effectiveness. However, despite the availability of these interventions, their effectiveness remains limited and constrained by various factors. The lack of a widely accepted treatment for children with prosopagnosia emphasizes the need for further research to improve intervention strategies. Last, three future research directions were proposed to improve interventions for prosopagnosia, including ecological approaches, the social challenges faced by children, and new potential intervention methods.
PubMed: 37622816
DOI: 10.3390/bs13080676 -
Ophthalmology Aug 2023We provide global estimates of the prevalence of corneal blindness and vision impairment in adults 40 years of age and older and examine the burden by age, sex, and... (Meta-Analysis)
Meta-Analysis Review
TOPIC
We provide global estimates of the prevalence of corneal blindness and vision impairment in adults 40 years of age and older and examine the burden by age, sex, and geographic region from 1984 through 2020.
CLINICAL RELEVANCE
Corneal opacities (COs) are among the top 5 causes of blindness worldwide, yet the global prevalence, regional differences, and risk factors are unclear.
METHODS
Abstracted data from the published literature and surveys were obtained from the Global Burden of Disease Vision Loss Expert Group. We supplemented this by an independent systematic literature search of several databases. Studies that provided CO vision impairment data based on population-based surveys for those 40 years of age or older were included, for a total of 244. For each of the 4 outcomes of blindness and moderate to severe vision impairment (MSVI) caused by trachomatous and nontrachomatous CO (NTCO), time trends and differences in prevalence by region, age, and sex were evaluated using a Poisson log-linear model with a generalized estimating equation method. Age-standardized estimates of global prevalence of blindness and MSVI were calculated using the 2015 United Nations standard populations.
RESULTS
The global prevalence of blindness resulting from NTCO in those 40 years and older was 0.081% (95% confidence interval [CI], 0.049%-0.315%); that of MSVI was 0.130% (95% CI, 0.087%-0.372%). A significant increase with age was found (prevalence rate ratio, 2.15; 95% CI, 1.99-2.32). Latin America and Europe showed the lowest rates, with 2- to 8-fold higher rates of blindness or MSVI in other regions. The global prevalence of blindness resulting from trachomatous CO in those 50 years and older was 0.0094% (95% CI, 0%-0.0693%); that from MSVI was 0.012% (95% CI, 0%-0.0761%). Blindness resulting from trachomatous CO and MSVI increased with age and female sex, and rates were significantly higher in the African regions. A decrease in trachomatous blindness rates over time was found (prevalence rate ratio, 0.91; 95% CI, 0.86-0.96).
DISCUSSION
An estimated 5.5 million people worldwide are bilaterally blind or have MSVI resulting from CO, with an additional 6.2 million unilaterally blind. Blindness resulting from trachomatous CO is declining over time, likely because of the massive scaleup of the global trachoma elimination program and overall socioeconomic development.
FINANCIAL DISCLOSURE(S)
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Topics: Adult; Humans; Female; Blindness; Vision Disorders; Visually Impaired Persons; Trachoma; Corneal Opacity; Prevalence
PubMed: 36963570
DOI: 10.1016/j.ophtha.2023.03.012 -
International Journal of Molecular... Aug 2023The cornea is the window through which we see the world. Corneal clarity is required for vision, and blindness occurs when the cornea becomes opaque. The cornea is... (Review)
Review
The cornea is the window through which we see the world. Corneal clarity is required for vision, and blindness occurs when the cornea becomes opaque. The cornea is covered by unique transparent epithelial cells that serve as an outermost cellular barrier bordering between the cornea and the external environment. Corneal sensory nerves protect the cornea from injury by triggering tearing and blink reflexes, and are also thought to regulate corneal epithelial renewal via unknown mechanism(s). When protective corneal sensory innervation is absent due to infection, trauma, intracranial tumors, surgery, or congenital causes, permanent blindness results from repetitive epithelial microtraumas and failure to heal. The condition is termed neurotrophic keratopathy (NK), with an incidence of 5:10,000 people worldwide. In this report, we review the currently available therapeutic solutions for NK and discuss the progress in our understanding of how the sensory nerves induce corneal epithelial renewal.
Topics: Humans; Cornea; Nervous System Physiological Phenomena; Corneal Dystrophies, Hereditary; Blindness; Afferent Pathways
PubMed: 37628793
DOI: 10.3390/ijms241612615 -
Experimental Neurology Nov 2023GABA receptor subunit gene (GABR) mutations are significant causes of epilepsy, including syndromic epilepsy. This report for the first time, describes intractable...
OBJECTIVE
GABA receptor subunit gene (GABR) mutations are significant causes of epilepsy, including syndromic epilepsy. This report for the first time, describes intractable epilepsy and blindness due to optic atrophy in our patient, who has a microdeletion of the GABRA1 and GABRG2 genes. We then characterized the molecular phenotypes and determined patho-mechanisms underlying the genotype-phenotype correlations in a mouse model who is haploinsufficient for both genes (Gabra1/Gabrg2 mouse).
METHODS
Electroencephalography was conducted in both human and mice with the same gene loss. GABA receptor expression was evaluated by biochemical and imaging approaches. Optic nerve atrophy was evaluated with fundus photography in human while electronic microscopy, visual evoked potential and electroretinography recordings were conducted in mice.
RESULTS
The patient has bilateral optical nerve atrophy. Mice displayed spontaneous seizures, reduced electroretinography oscillatory potential and reduced GABA receptor α1, β2 and γ2 subunit expression in various brain regions. Electronic microscopy showed that mice also had optic nerve degeneration, as indicated by increased G-ratio, the ratio of the inner axonal diameter to the total outer diameter, suggesting impaired myelination of axons. More importantly, we identified that phenobarbital was the most effective anticonvulsant in mice and the patient's seizures were also controlled with phenobarbital after failing multiple anti-seizure drugs.
CONCLUSIONS
This study is the first report of haploinsufficiency of two GABR epilepsy genes and visual impairment due to altered axonal myelination and resultant optic nerve atrophy. The study suggests the far-reaching impact of GABR mutations and the translational significance of animal models with the same etiology.
Topics: Humans; Mice; Animals; Receptors, GABA-A; Evoked Potentials, Visual; Epilepsy; Disease Models, Animal; Phenobarbital; Blindness; Atrophy
PubMed: 37703949
DOI: 10.1016/j.expneurol.2023.114537 -
Cognitive Research: Principles and... Mar 2024People often fail to notice unexpected stimuli when their attention is directed elsewhere. Most studies of this "inattentional blindness" have been conducted using... (Review)
Review
People often fail to notice unexpected stimuli when their attention is directed elsewhere. Most studies of this "inattentional blindness" have been conducted using laboratory tasks with little connection to real-world performance. Medical case reports document examples of missed findings in radiographs and CT images, unintentionally retained guidewires following surgery, and additional conditions being overlooked after making initial diagnoses. These cases suggest that inattentional blindness might contribute to medical errors, but relatively few studies have directly examined inattentional blindness in realistic medical contexts. We review the existing literature, much of which focuses on the use of augmented reality aids or inspection of medical images. Although these studies suggest a role for inattentional blindness in errors, most of the studies do not provide clear evidence that these errors result from inattentional blindness as opposed to other mechanisms. We discuss the design, analysis, and reporting practices that can make the contributions of inattentional blindness unclear, and we describe guidelines for future research in medicine and similar contexts that could provide clearer evidence for the role of inattentional blindness.
Topics: Humans; Attention; Blindness; Medicine; Mental Disorders
PubMed: 38536589
DOI: 10.1186/s41235-024-00537-x -
Cureus Oct 2023Diabetes mellitus (DM) has become a worldwide problem, endangering the well-being of people. This issue is further aggravated by the increased fatty content in the diet... (Review)
Review
Diabetes mellitus (DM) has become a worldwide problem, endangering the well-being of people. This issue is further aggravated by the increased fatty content in the diet of most of the Indian population. It is a preeminent source of the genesis of morbidity in the citizens of any given continent, including both new-world countries and old ones too. A major stumbling block that diabetes creates in the healthy living of any of its sufferers is a complication called diabetic retinopathy (DR), which, in its most elementary and perspicuous form, refers to damage to the blood vessels in the retina of the human eye that occurs as a result of high serum glucose levels. DR can have many symptoms, including obscure and blurred vision, trouble observing and distinguishing various colors, and eye floaters. One of the most significant reasons for the manifestation of new cases of complete blindness may be attributed to DR. The appearance of lesions in the body's small blood vessels forms the basis of retinopathic detection. The currently accepted approach for the prevention and cure of this ailment targets deterring the microvascular complexities through medicinal agents that are placed directly into the vitreous space, photocoagulation through laser medium (visual perceptivity is balanced), and some other surgeries related to the vitreous chamber. Anti-vascular endothelial growth factor (anti-VEGF) therapy provided to the patient by intravitreal route is, at present, the most crucial process for curing the sufferer of the given illness, as it can result in optical advancement with decreased unfavorable effects.
PubMed: 37954772
DOI: 10.7759/cureus.46842 -
International Journal of Molecular... Aug 2023Migraine is a disabling neurological disorder burdening patients globally. Through the increasing development of preclinical and clinical experimental migraine models,... (Review)
Review
Migraine is a disabling neurological disorder burdening patients globally. Through the increasing development of preclinical and clinical experimental migraine models, advancing appreciation of the extended clinical phenotype, and functional neuroimaging studies, we can further our understanding of the neurobiological basis of this highly disabling condition. Despite increasing understanding of the molecular and chemical architecture of migraine mechanisms, many areas require further investigation. Research over the last three decades has suggested that migraine has a strong genetic basis, based on the positive family history in most patients, and this has steered exploration into possibly implicated genes. In recent times, human genome-wide association studies and rodent genetic migraine models have facilitated our understanding, but most migraine seems polygenic, with the monogenic migraine mutations being considerably rarer, so further large-scale studies are required to elucidate fully the genetic underpinnings of migraine and the translation of these to clinical practice. The monogenic migraine mutations cause severe aura phenotypes, amongst other symptoms, and offer valuable insights into the biology of aura and the relationship between migraine and other conditions, such as vascular disease and sleep disorders. This review will provide an outlook of what is known about some monogenic migraine mutations, including familial hemiplegic migraine, familial advanced sleep-phase syndrome, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Topics: Humans; Genome-Wide Association Study; Migraine Disorders; Mutation; Arthrogryposis; Blindness; Cerebral Arterial Diseases
PubMed: 37628876
DOI: 10.3390/ijms241612697 -
Lancet Regional Health. Americas Aug 2023Reliable national estimations for blindness and vision impairment are fundamental to assessing their burden and developing public health policies. However, no...
BACKGROUND
Reliable national estimations for blindness and vision impairment are fundamental to assessing their burden and developing public health policies. However, no comprehensive analysis is available for Mexico. Therefore, in this observational study we describe the national burden of blindness and vision loss by cause and severity during 2019.
METHODS
Using public data from the Global Burden of Disease (GBD) study 2019, we present national prevalence and years lived with disability (YLDs) counts and crude and age-standardized rates (per 100,000 people) of total, severity- and cause-specific blindness and vision impairment with 95% uncertainty intervals (UIs) by sex and age group.
FINDINGS
In Mexico, the burden of blindness and vision impairment was estimated at 11.01 million (95% UI, 9.25-13.11) prevalent cases and 384.96 thousand (259.57-544.24) YLDs during 2019. Uncorrected presbyopia caused the highest burden (6.06 million cases, 4.36-8.08), whereas severe vision loss and blindness affected 619.40 thousand (539.40-717.73) and 513.84 thousand (450.59-570.98) people, respectively. Near vision loss and refraction disorders caused 78.7% of the cases, whereas neonatal disorders and age-related macular degeneration were among the least frequent. Refraction disorders were the main cause of moderate and severe vision loss (61.44 and 35.43%), and cataracts were the second most frequent cause of blindness (26.73%). Females suffered an overall higher burden of blindness and vision impairment (54.99% and 52.85% of the total cases and YLDs), and people >50 years of age suffered the highest burden, with people between 70 and 74 years being the most affected.
INTERPRETATION
Vision loss represents a public health problem in Mexico, with women and older people being the most affected. Although the causes of vision loss contribute differentially to the severity of visual impairment, most of the impairment is avoidable. Consequently, a concerted effort at different levels is needed to alleviate this burden.
FUNDING
This study received no funding.
PubMed: 37457139
DOI: 10.1016/j.lana.2023.100552 -
Revisiting Retinal Degeneration Hallmarks: Insights from Molecular Markers and Therapy Perspectives.International Journal of Molecular... Aug 2023Visual impairment and blindness are a growing public health problem as they reduce the life quality of millions of people. The management and treatment of these diseases... (Review)
Review
Visual impairment and blindness are a growing public health problem as they reduce the life quality of millions of people. The management and treatment of these diseases represent scientific and therapeutic challenges because different cellular and molecular actors involved in the pathophysiology are still being identified. Visual system components, particularly retinal cells, are extremely sensitive to genetic or metabolic alterations, and immune responses activated by local insults contribute to biological events, culminating in vision loss and irreversible blindness. Several ocular diseases are linked to retinal cell loss, and some of them, such as retinitis pigmentosa, age-related macular degeneration, glaucoma, and diabetic retinopathy, are characterized by pathophysiological hallmarks that represent possibilities to study and develop novel treatments for retinal cell degeneration. Here, we present a compilation of revisited information on retinal degeneration, including pathophysiological and molecular features and biochemical hallmarks, and possible research directions for novel treatments to assist as a guide for innovative research. The knowledge expansion upon the mechanistic bases of the pathobiology of eye diseases, including information on complex interactions of genetic predisposition, chronic inflammation, and environmental and aging-related factors, will prompt the identification of new therapeutic strategies.
Topics: Humans; Retinal Degeneration; Macular Degeneration; Retinitis Pigmentosa; Biomarkers; Blindness; Retina
PubMed: 37685886
DOI: 10.3390/ijms241713079