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Brain and Behavior Jul 2024Stroke damage to the primary visual cortex induces large, homonymous visual field defects that impair daily living. Here, we asked if vision-related quality of life... (Meta-Analysis)
Meta-Analysis
BACKGROUND/OBJECTIVES
Stroke damage to the primary visual cortex induces large, homonymous visual field defects that impair daily living. Here, we asked if vision-related quality of life (VR-QoL) is impacted by time since stroke.
SUBJECTS/METHODS
We conducted a retrospective meta-analysis of 95 occipital stroke patients (female/male = 26/69, 27-78 years old, 0.5-373.5 months poststroke) in whom VR-QoL was estimated using the National Eye Institute Visual Functioning Questionnaire (NEI-VFQ) and its 10-item neuro-ophthalmic supplement (Neuro10). Visual deficit severity was represented by the perimetric mean deviation (PMD) calculated from 24-2 Humphrey visual fields. Data were compared with published cohorts of visually intact controls. The relationship between VR-QoL and time poststroke was assessed across participants, adjusting for deficit severity and age with a multiple linear regression analysis.
RESULTS
Occipital stroke patients had significantly lower NEI-VFQ and Neuro10 composite scores than controls. All subscale scores describing specific aspects of visual ability and functioning were impaired except for ocular pain and general health, which did not differ significantly from controls. Surprisingly, visual deficit severity was not correlated with either composite score, both of which increased with time poststroke, even when adjusting for PMD and age.
CONCLUSIONS
VR-QoL appears to improve with time postoccipital stroke, irrespective of visual deficit size or patient age at insult. This may reflect the natural development of compensatory strategies and lifestyle adjustments. Thus, future studies examining the impact of rehabilitation on daily living in this patient population should consider the possibility that their VR-QoL may change gradually over time, even without therapeutic intervention.
Topics: Humans; Quality of Life; Female; Middle Aged; Male; Stroke; Aged; Adult; Retrospective Studies; Vision Disorders; Occipital Lobe; Visual Fields
PubMed: 38956813
DOI: 10.1002/brb3.3582 -
European Journal of Sport Science Jul 2024Sports performance is relatively robust under high levels of binocular blur. However, the limited research studies investigating monocular impairments has shown it has a...
Sports performance is relatively robust under high levels of binocular blur. However, the limited research studies investigating monocular impairments has shown it has a larger impact on sport performance. This research study is relevant for classification in sports for athletes with vision impairment (VI), where visual acuity (VA) from the better eye is used during classification. Across two experiments, we aimed to establish the point at which binocular and monocular impairments affected performance in a football penalty kick (PK) through simulating varying severities of degraded VA and contrast sensitivity (CS) in active football players. In experiment one, 25 footballers performed PKs as VA and CS were systematically decreased in both eyes, and in one condition, visual field (VF) was reduced. The most severe VA/CS condition and reduced VF significantly impacted outcome, ball velocity and placement (ball kicked closer to the centre of the goal) (p < 0.05). In experiment two, 29 different footballers performed PKs as VA and CS of only the dominant eye were systematically decreased and in one condition the dominant eye was occluded, and participants viewed their environment through the non-dominant eye (monocular viewing). No differences were observed when assessing monocular impairments influence on outcome, velocity and ball placement. PKs have a high resilience to VI, but binocular impairment has a more immediate effect, suggesting binocular measures should be used in classification processes in football.
Topics: Humans; Soccer; Vision, Binocular; Visual Acuity; Male; Athletic Performance; Young Adult; Adult; Vision Disorders; Contrast Sensitivity; Vision, Monocular; Visual Fields
PubMed: 38956797
DOI: 10.1002/ejsc.12145 -
Italian Journal of Pediatrics Jul 2024Cortical visual impairment (CVI) is a verifiable visual dysfunction that cannot be attributed to disorders of the anterior visual pathways or any potentially...
BACKGROUND
Cortical 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 PRESENTATION
This 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.
CONCLUSIONS
The 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.
Topics: Humans; Female; Child, Preschool; Amblyopia; Visual Acuity; Eyeglasses; Blindness, Cortical; Hypoxia-Ischemia, Brain; Evoked Potentials, Visual
PubMed: 38956699
DOI: 10.1186/s13052-024-01679-w -
Journal of Eating Disorders Jul 2024Patients with avoidant/restrictive food intake disorder (ARFID) commonly present with loss of weight or faltering growth in the setting of poor nutrition. However,...
BACKGROUND
Patients with avoidant/restrictive food intake disorder (ARFID) commonly present with loss of weight or faltering growth in the setting of poor nutrition. However, patients with ARFID can present with micronutrient deficiencies without weight loss. In patients with ARFID, clinicians should be vigilant for micronutrient deficiencies and their presentations.
CASE PRESENTATION
We report a unique case of ARFID in a twelve-year-old girl, who developed micronutrient deficiencies and presented with acute visual loss with a preceding history of impaired night vision. Ophthalmic examination revealed xerophthalmia and bilateral optic neuropathy. Investigations showed severe Vitamin A and folate deficiencies which accounted for her clinical findings. In addition, she was also found to have low Vitamin B12, copper, and Vitamin D levels. She had a history of selective eating from a young age with a diet consisting largely of carbohydrates, with no regular intake of meat, dairy, fruit and vegetables. This was not driven by weight or body image concerns. The patient's symptoms improved significantly with appropriate vitamin replacement and continued multidisciplinary care.
CONCLUSIONS
This report describes a patient with ARFID presenting with visual complaints. In this case, the selective eating behaviours resulted in xeropthalmia and optic neuropathy. Micronutrient deficiencies are uncommon in developed countries. When these deficiencies are suspected, eating disorders, such as ARFID, should be considered. Similarly, clinicians caring for patients with restrictive eating disorders including ARFID should be familiar with the clinical presentations of various micronutrient deficiencies and consider evaluation and treatment for micronutrient deficiencies when clinically indicated.
PubMed: 38956602
DOI: 10.1186/s40337-024-01042-8 -
BMC Medical Genomics Jul 2024Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we...
Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
BACKGROUND
Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we applied the whole exome sequencing (WES) to find the cause of HL and COD in an Iranian consanguineous family with three affected individuals.
METHODS
Three members from an Iranian consanguineous family who were suffering from NSHL and visual impairment were ascertained in this study. Comprehensive clinical evaluations and genetic analysis followed by bioinformatic and co-segregation studies were performed to diagnose the cause of these phenotypes. Data were collected from 2020 to 2022.
RESULTS
All cases showed congenital bilateral NSHL, decreased visual acuity, poor color discrimination, photophobia and macular atrophy. Moreover, cornea, iris and anterior vitreous were within normal limit in both eyes, decreased foveal sensitivity, central scotoma and generalized depression of visual field were seen in three cases. WES results showed two variants, a novel null variant (p.Trp548Ter) in the PDE6C gene causing COD type 4 (Achromatopsia) and a previously reported variant (p.Ile84Thr) in the PDZD7 gene causing NSHL. Both variants were found in the cis configuration on chromosome 10 with a genetic distance of about 8.3 cM, leading to their co-inheritance. However, two diseases could appear independently in subsequent generations due to crossover during meiosis.
CONCLUSIONS
Here, we could successfully determine the etiology of a seemingly complex phenotype in two adjacent genes. We identified a novel variant in the PDE6C gene, related to achromatopsia. Interestingly, this variant could cooperatively cause visual disorders: cone dystrophy and cone-rod dystrophy.
Topics: Humans; Color Vision Defects; Cyclic Nucleotide Phosphodiesterases, Type 6; Male; Female; Pedigree; Exome Sequencing; Adult; Hearing Loss; Mutation; Consanguinity; Child; Iran; Phenotype; Eye Proteins
PubMed: 38956522
DOI: 10.1186/s12920-024-01942-3 -
Documenta Ophthalmologica. Advances in... Jul 2024Multiple sclerosis (MS) is a neuro-inflammatory disease affecting the central nervous system (CNS), where the immune system targets and damages the protective myelin...
PURPOSE
Multiple sclerosis (MS) is a neuro-inflammatory disease affecting the central nervous system (CNS), where the immune system targets and damages the protective myelin sheath surrounding nerve fibers, inhibiting axonal signal transmission. Demyelinating optic neuritis (ON), a common MS symptom, involves optic nerve damage. We've developed NeuroVEP, a portable, wireless diagnostic system that delivers visual stimuli through a smartphone in a headset and measures evoked potentials at the visual cortex from the scalp using custom electroencephalography electrodes.
METHODS
Subject vision is evaluated using a short 2.5-min full-field visual evoked potentials (ffVEP) test, followed by a 12.5-min multifocal VEP (mfVEP) test. The ffVEP evaluates the integrity of the visual pathway by analyzing the P100 component from each eye, while the mfVEP evaluates 36 individual regions of the visual field for abnormalities. Extensive signal processing, feature extraction methods, and machine learning algorithms were explored for analyzing the mfVEPs. Key metrics from patients' ffVEP results were statistically evaluated against data collected from a group of subjects with normal vision. Custom visual stimuli with simulated defects were used to validate the mfVEP results which yielded 91% accuracy of classification.
RESULTS
20 subjects, 10 controls and 10 with MS and/or ON were tested with the NeuroVEP device and a standard-of-care (SOC) VEP testing device which delivers only ffVEP stimuli. In 91% of the cases, the ffVEP results agreed between NeuroVEP and SOC device. Where available, the NeuroVEP mfVEP results were in good agreement with Humphrey Automated Perimetry visual field analysis. The lesion locations deduced from the mfVEP data were consistent with Magnetic Resonance Imaging and Optical Coherence Tomography findings.
CONCLUSION
This pilot study indicates that NeuroVEP has the potential to be a reliable, portable, and objective diagnostic device for electrophysiology and visual field analysis for neuro-visual disorders.
PubMed: 38955958
DOI: 10.1007/s10633-024-09980-z -
Molecular Diagnosis & Therapy Jul 2024Gene therapies have emerged as promising treatments in clinical development for various retinal disorders, offering hope to patients with inherited degenerative eye... (Review)
Review
Gene therapies have emerged as promising treatments in clinical development for various retinal disorders, offering hope to patients with inherited degenerative eye conditions. Several gene therapies have already shown remarkable success in clinical trials, with significant improvements observed in visual acuity and the preservation of retinal function. A multitude of gene therapies have now been delivered safely in human clinical trials for a wide range of inherited retinal disorders but there are some gaps in the reported trial data. Some of the most exciting treatment options are not under peer review and information is only available in press release form. Whilst many trials appear to have delivered good outcomes of safety, others have failed to meet primary endpoints and therefore not proceeded to phase III. Despite this, such trials have enabled researchers to learn how best to assess and monitor patient outcomes, which will guide future trials to greater success. In this review, we consider recent and ongoing clinical trials for a variety of potential retinal gene therapy treatments and discuss the positive and negative issues related to these trials. We discuss the treatment potential following clinical trials as well as the potential risks of some treatments under investigation. As these therapies continue to advance through rigorous testing and regulatory approval processes, they hold the potential to revolutionise the landscape of retinal disorder treatments, providing renewed vision and enhancing the quality of life for countless individuals worldwide.
PubMed: 38955952
DOI: 10.1007/s40291-024-00722-0 -
Research and Theory For Nursing Practice Jul 2024Research on the childcare experiences of visually impaired mothers and their expectations from nurses in this context is relatively scarce. This study aims to explore...
Research on the childcare experiences of visually impaired mothers and their expectations from nurses in this context is relatively scarce. This study aims to explore the experiences of visually impaired mothers in caring for their children, as well as their expectations from nurses during this process. The goal is to provide strategic recommendations for nurses based on these expectations. The study utilized a phenomenological design and employed a qualitative methodology. Data for this study were collected in six different provinces of Turkey between March 2019 and May 2020. The study group consisted of 25 visually impaired mothers with nondisabled children aged 0-18 years. The analysis yielded four themes: "Postpartum Emotions and Care at 0-1 Years," "Hygienic Care of the Child," "Experiences in the Child's Illness," and "Nursing Support: Expectations of Visually Impaired Mothers." While the first three themes are associated with childcare, the fourth theme encompasses both the expectations from nurses and recommendations for visually impaired mothers. The study found that visually impaired mothers had unique experiences and either received assistance or developed childcare strategies. However, it was observed that nurses struggled to empathize with visually impaired mothers, and efforts to address their specific needs were limited. Pediatric nurses should develop methods to facilitate childcare for visually impaired mothers. Successful outcomes in this field depend on nurses collaborating with visually impaired mothers and providing them with ongoing support.
PubMed: 38955436
DOI: 10.1891/RTNP-2024-0008 -
Biomedical Physics & Engineering Express Jul 2024The prevalence of vision impairment is increasing at an alarming rate. The goal of the study was to create an automated method that uses optical coherence tomography...
The prevalence of vision impairment is increasing at an alarming rate. The goal of the study was to create an automated method that uses optical coherence tomography (OCT) to classify retinal disorders into four categories: choroidal neovascularization, diabetic macular edema, drusen, and normal cases. This study proposed a new framework that combines machine learning and deep learning-based techniques. The utilized classifiers were support vector machine (SVM), K-nearest neighbor (K-NN), decision tree (DT), and ensemble model (EM). A feature extractor, the InceptionV3 convolutional neural network, was also employed. The performance of the models was evaluated against nine criteria using a dataset of 18000 OCT images. For the SVM, K-NN, DT, and EM classifiers, the analysis exhibited state-of-the-art performance, with classification accuracies of 99.43%, 99.54%, 97.98%, and 99.31%, respectively. A promising methodology has been introduced for the automatic identification and classification of retinal disorders, leading to reduced human error and saved time. .
PubMed: 38955139
DOI: 10.1088/2057-1976/ad5db2 -
Medical Image Analysis Jun 2024Accurate histopathological subtype prediction is clinically significant for cancer diagnosis and tumor microenvironment analysis. However, achieving accurate...
Accurate histopathological subtype prediction is clinically significant for cancer diagnosis and tumor microenvironment analysis. However, achieving accurate histopathological subtype prediction is a challenging task due to (1) instance-level discrimination of histopathological images, (2) low inter-class and large intra-class variances among histopathological images in their shape and chromatin texture, and (3) heterogeneous feature distribution over different images. In this paper, we formulate subtype prediction as fine-grained representation learning and propose a novel multi-instance selective transformer (MIST) framework, effectively achieving accurate histopathological subtype prediction. The proposed MIST designs an effective selective self-attention mechanism with multi-instance learning (MIL) and vision transformer (ViT) to adaptive identify informative instances for fine-grained representation. Innovatively, the MIST entrusts each instance with different contributions to the bag representation based on its interactions with instances and bags. Specifically, a SiT module with selective multi-head self-attention (S-MSA) is well-designed to identify the representative instances by modeling the instance-to-instance interactions. On the contrary, a MIFD module with the information bottleneck is proposed to learn the discriminative fine-grained representation for histopathological images by modeling instance-to-bag interactions with the selected instances. Substantial experiments on five clinical benchmarks demonstrate that the MIST achieves accurate histopathological subtype prediction and obtains state-of-the-art performance with an accuracy of 0.936. The MIST shows great potential to handle fine-grained medical image analysis, such as histopathological subtype prediction in clinical applications.
PubMed: 38954942
DOI: 10.1016/j.media.2024.103251