-
Irish Journal of Medical Science Oct 2023Emergency service vehicle (ESV) drivers are an important part of the health, fire and police services. ESV driving is associated with increased crash risk, but little... (Review)
Review
BACKGROUND
Emergency service vehicle (ESV) drivers are an important part of the health, fire and police services. ESV driving is associated with increased crash risk, but little guidance exists in the literature on relevant medical conditions among drivers and their potential for adding to higher crash risks.
AIMS
We undertook a narrative review to examine the role of medical and other conditions in crash risk of ESV drivers.
METHOD
A literature search was conducted using the ScienceDirect and Transport Research International Documentation (TRID) databases. There was no time frame for the search, and results were restricted to review and research articles.
RESULTS
Of 570 papers identified, 13 remained after screening and full-text review. A range of factors have been shown to have an impact on increased crash risk, including the nature of the task, physical features of the equipment, training, experience, environmental conditions and secondary tasks. There was scant information on medical conditions other than alcohol use disorders.
CONCLUSIONS
Given issues of speed, vehicle and environment, it would seem prudent to mandate levels of medical fitness to drive similar to and sometimes exceeding (i.e. colour blindness for traffic signals and alerts, hearing impairment as first responders) those for group 2 drivers with extra stipulations relating to specific service needs such as enhanced visual (such as colour blindness and contrast sensitivity) and auditory function. Further research is needed on the prevalence and emergence of relevant medical conditions among ESV drivers, with due consideration of their application to the driving tasks in each service.
Topics: Humans; Automobile Driving; Accidents, Traffic; Alcoholism; Color Vision Defects; Ambulances
PubMed: 36752949
DOI: 10.1007/s11845-023-03301-0 -
American Journal of Ophthalmology Sep 2023To assess the safety and efficacy of AAV8-hCARp.hCNGB3 in participants with CNGB3-associated achromatopsia (ACHM). (Clinical Trial)
Clinical Trial
PURPOSE
To assess the safety and efficacy of AAV8-hCARp.hCNGB3 in participants with CNGB3-associated achromatopsia (ACHM).
DESIGN
Prospective, phase 1/2 (NCT03001310), open-label, nonrandomized clinical trial.
METHODS
The study enrolled 23 adults and children with CNGB3-associated ACHM. In the dose-escalation phase, adult participants were administered 1 of 3 AAV8-hCARp.hCNGB3 dose levels in the worse-seeing eye (up to 0.5 mL). After a maximum tolerated dose was established in adults, an expansion phase was conducted in children ≥3 years old. All participants received topical and oral corticosteroids. Safety and efficacy parameters, including treatment-related adverse events and visual acuity, retinal sensitivity, color vision, and light sensitivity, were assessed for 6 months.
RESULTS
AAV8-hCARp.hCNGB3 (11 adults, 12 children) was safe and generally well tolerated. Intraocular inflammation occurred in 9 of 23 participants and was mainly mild or moderate in severity. Severe cases occurred primarily at the highest dose. Two events were considered serious and dose limiting. All intraocular inflammation resolved following topical and systemic steroids. There was no consistent pattern of change from baseline to week 24 for any efficacy assessment. However, favorable changes were observed for individual participants across several assessments, including color vision (n = 6/23), photoaversion (n = 11/20), and vision-related quality-of-life questionnaires (n = 21/23).
CONCLUSIONS
AAV8-hCARp.hCNGB3 for CNGB3-associated ACHM demonstrated an acceptable safety and tolerability profile. Improvements in several efficacy parameters indicate that AAV8-hCARp.hCNGB3 gene therapy may provide benefit. These findings, with the development of additional sensitive and quantitative end points, support continued investigation.
Topics: Humans; Adult; Child; Child, Preschool; Color Vision Defects; Prospective Studies; Cyclic Nucleotide-Gated Cation Channels; Genetic Therapy; Inflammation
PubMed: 37172884
DOI: 10.1016/j.ajo.2023.05.009 -
Genes Jun 2024Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal disorders (IRDs), the leading cause of sight loss in children and working-age adults.... (Review)
Review
Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs result from the dysfunction of the cone photoreceptors in the macula and manifest as the loss of colour vision and reduced visual acuity. Currently, 37 genes are associated with varying forms of ICD; however, almost half of all patients receive no molecular diagnosis. This review will discuss the known ICD genes, their molecular function, and the diseases they cause, with a focus on the most common forms of ICDs, including achromatopsia, progressive cone dystrophies (CODs), and cone-rod dystrophies (CORDs). It will discuss the gene-specific therapies that have emerged in recent years in order to treat patients with some of the more common ICDs.
Topics: Humans; Color Vision Defects; Cone-Rod Dystrophies; Retinal Cone Photoreceptor Cells; Cone Dystrophy; Blindness; Animals; Genetic Therapy
PubMed: 38927662
DOI: 10.3390/genes15060727 -
Clinical and Experimental Dermatology Mar 2024
Topics: Humans; Color Vision Defects; Dermatology
PubMed: 37966308
DOI: 10.1093/ced/llad391 -
Ophthalmic & Physiological Optics : the... Nov 2023Colour vision deficiencies (CVDs) indicate potential genetic variations and can be important biomarkers of acquired impairment in many neuro-ophthalmic diseases....
Colour vision deficiencies (CVDs) indicate potential genetic variations and can be important biomarkers of acquired impairment in many neuro-ophthalmic diseases. However, CVDs are typically measured with tests which possess high sensitivity for detecting the presence of a CVD but do not quantify its type or severity. In this study, we introduce Foraging Interactive D-prime (FInD), a novel computer-based, generalisable, rapid, self-administered vision assessment tool and apply it to colour vision testing. This signal detection theory-based adaptive paradigm computed test stimulus intensity from d-prime analysis. Stimuli were chromatic Gaussian blobs in dynamic luminance noise, and participants clicked on cells that contained chromatic blobs (detection) or blob pairs of differing colours (discrimination). Sensitivity and repeatability of FInD colour tasks were compared against the Hardy-Rand-Rittler and the Farnsworth-Munsell 100 hue tests in 19 colour-normal and 18 inherited colour-atypical, age-matched observers. Rayleigh colour match was also completed. Detection and discrimination thresholds were higher for atypical than for typical observers, with selective threshold elevations corresponding to unique CVD types. Classifications of CVD type and severity via unsupervised machine learning confirmed functional subtypes. FInD tasks reliably detect inherited CVDs, and may serve as valuable tools in basic and clinical colour vision science.
Topics: Humans; Color Vision Defects; Color Vision; Vision Tests; Machine Learning; Cardiovascular Diseases; Color Perception
PubMed: 37589437
DOI: 10.1111/opo.13210 -
Ophthalmic Genetics Feb 2024The sodium channel and clathrin linker 1 gene () has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital...
BACKGROUND
The sodium channel and clathrin linker 1 gene () has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. Detailed exams are warranted to outline all clinical features. Here, we present a family with a milder phenotype of -related disease.
MATERIAL AND METHODS
Comprehensive eye examination including fundus images, OCT, color vision, visual fields and electroretinography were performed. Affected individuals were assessed by a pediatrician and a medical geneticist for systemic features of ciliopathy. Investigations included echocardiography, abdominal ultrasonography, blood work-up for diabetes, liver and kidney function. Genetic testing included NGS retinal dystrophy panel, segregation analysis and transcriptome sequencing.
RESULTS
Two male children, age 10 and 8 years, were affected with attention deficit hyperactivity disorder (ADHD), obesity and mild photophobia. The ophthalmic exam revealed reduced best-corrected visual acuity (BCVA), strabismus, hyperopia, astigmatism and moderate red-green defects. Milder changes suggesting photoreceptors disease were found on retinal imaging. Electroretinogram confirmed cone photoreceptors dysfunction. Genetic testing revealed a homozygous likely pathogenic, splice-site variant in gene NM_144643.3: c.1439 + 1del in the proband and in the affected brother. The unaffected parents were heterozygous for the variant. Transcriptome sequencing showed retention of intron 16 in the proband.
CONCLUSIONS
In this report, we highlight the importance of further extensive diagnostics in patients with unexplained reduced vision, strabismus, refractive errors and ADHD spectrum disorders. -related retinal degeneration is very rare and isolated reduced function of cone photoreceptors has not previously been observed.
Topics: Child; Humans; Male; Retinal Cone Photoreceptor Cells; Siblings; Electroretinography; Retinal Dystrophies; Ciliopathies; Phenotype; Pedigree; Strabismus; Mutation; Sodium Channels
PubMed: 37246745
DOI: 10.1080/13816810.2023.2215332 -
MedRxiv : the Preprint Server For... Dec 2023Multiple Sclerosis (MS) is a neuro-inflammatory disease of the Central Nervous System (CNS) in which the body's immune system attacks and destroys myelin sheath that...
PURPOSE
Multiple Sclerosis (MS) is a neuro-inflammatory disease of the Central Nervous System (CNS) in which the body's immune system attacks and destroys myelin sheath that protects nerve fibers and causes disruption in axonal signal transmission. Demyelinating Optic Neuritis (ON) is often a manifestation of MS and involves inflammation of the optic nerve. ON can cause vision loss, pain and discomfort in the eyes, and difficulties in color perception.In this study, we 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 near the O1, Oz, O2, O9 and O10 locations on the scalp (extended 10-20 system) using custom electroencephalography (EEG) electrodes.
METHODS
Each test session is constituted by a short 2.5-minute full-field visual evoked potentials (ffVEP) test, followed by a 12.5-minute multifocal VEP (mfVEP) test. The ffVEP test evaluates the integrity of the visual pathway by analyzing the P1 (also known as P100) component of responses from each eye, while the mfVEP test 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 mfVEP responses. The results of the ffVEP test for patients were evaluated against normative 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 (MRI) and Optical Coherence Tomography (OCT) 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: 38234795
DOI: 10.1101/2023.12.26.23300405 -
Current Biology : CB Aug 2023How will people who spent their visual lives with only rods respond to cone function restoration? Will they be able suddenly see the colors of the rainbow?...
How will people who spent their visual lives with only rods respond to cone function restoration? Will they be able suddenly see the colors of the rainbow? CNGA3-achromatopsia is a congenital hereditary disease in which cone dysfunction leads patients to have rod photoreceptor-driven vision only in daylight, seeing the world in blurry shades of gray. We studied color perception in four CNGA3-achromatopsia patients following monocular retinal gene augmentation therapy. Following treatment, although some cortical changes were reported, patients did not report a dramatic change in their vision. However, in accordance with the fact that sensitivity of rods and cones is most different at long wavelengths, they consistently reported seeing red objects on dark backgrounds differently than they did before surgery. Because clinical color assessments failed to find any indication of color vision, we conducted a gamut of tailored tests to better define patients' descriptions. We evaluated patients' perceived lightness of different colors, color detection, and saliency, comparing their treated with their untreated eyes. Although the perceived lightness of different colors was generally similar between the eyes and matched a rod-input model, patients could detect a colored stimulus only in their treated eyes. In a search task, long response times, which were further extended with array size, suggested low saliency. We suggest that treated CNGA3-achromatopsia patients can perceive a stimulus's color attribute, although in a manner that is different and very limited compared with sighted individuals. We discuss the retinal and cortical obstacles that might explain this perceptual gap.
Topics: Humans; Color Vision Defects; Cyclic Nucleotide-Gated Cation Channels; Vision, Ocular; Retinal Cone Photoreceptor Cells
PubMed: 37433300
DOI: 10.1016/j.cub.2023.06.041 -
Scientific Reports Apr 2024Primary congenital glaucoma is a rare disease that occurs in early birth and can lead to low vision. Evaluating affected children is challenging and there is a lack of...
Primary congenital glaucoma is a rare disease that occurs in early birth and can lead to low vision. Evaluating affected children is challenging and there is a lack of studies regarding color vision in pediatric glaucoma patients. This cross-sectional study included 21 eyes of 13 children with primary congenital glaucoma who were assessed using the Farnsworth D-15 test to evaluate color vision discrimination and by spectral domain optical coherence tomography to measure retinal fiber layer thickness. Age, visual acuity, cup-to-disc ratio and spherical equivalent data were also collected. Global and sectional circumpapillary and macular retinal fiber layer thicknesses were measured and compared based on color vision test performance. Four eyes (19%) failed the color vision test with diffuse dyschromatopsia patterns. Only age showed statistical significance in color vision test performance. Global and sectional circumpapillary and macular retinal fiber layer thicknesses were similar between the color test outcomes dyschromatopsia and normal. While the color vision test could play a role in assessing children with primary congenital glaucoma, further studies are needed to correlate it with damage to retinal fiber layer thickness.
Topics: Humans; Female; Male; Child; Cross-Sectional Studies; Tomography, Optical Coherence; Glaucoma; Child, Preschool; Color Vision; Visual Acuity; Adolescent; Color Vision Defects; Color Perception; Retina; Color Perception Tests
PubMed: 38664551
DOI: 10.1038/s41598-024-60320-2