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Investigative Ophthalmology & Visual... Apr 2024Achromatopsia (ACHM) is an autosomal recessive retinal disease associated with reduced or absent cone function. There is debate regarding the extent to which cone...
PURPOSE
Achromatopsia (ACHM) is an autosomal recessive retinal disease associated with reduced or absent cone function. There is debate regarding the extent to which cone structure shows progressive degeneration in patients with ACHM. Here, we used optical coherence tomography (OCT) images to evaluate outer nuclear layer (ONL) thickness and ellipsoid zone (EZ) integrity over time in individuals with ACHM.
METHODS
Sixty-three individuals with genetically confirmed ACHM with follow-up ranging from about 6 months to 10 years were imaged using either Bioptigen or Cirrus OCT. Foveal cone structure was evaluated by assessing EZ integrity and ONL thickness.
RESULTS
A total of 470 OCT images were graded, 243 OD and 227 OS. The baseline distribution of EZ grades was highly symmetrical between eyes (P = 0.99) and there was no significant interocular difference in baseline ONL thickness (P = 0.12). The EZ grade remained unchanged over the follow-up period for 60 of 63 individuals. Foveal ONL thickness showed a clinically significant change in only 1 of the 61 individuals analyzed, although detailed adaptive optics imaging revealed no changes in cone density in this individual.
CONCLUSIONS
ACHM appears to be a generally stable condition, at least over the follow-up period assessed here. As cones are the cellular targets for emerging gene therapies, stable EZ and ONL thickness demonstrate therapeutic potential for ACHM, although other aspects of the visual system need to be considered when determining the best timing for therapeutic intervention.
Topics: Humans; Color Vision Defects; Tomography, Optical Coherence; Retinal Cone Photoreceptor Cells; Fovea Centralis; Retina
PubMed: 38587442
DOI: 10.1167/iovs.65.4.16 -
Investigative Ophthalmology & Visual... Apr 2024To describe and evaluate a novel method to determine the validity of measurements made using cycle-by-cycle (CxC) recording techniques in patients with advanced retinal...
PURPOSE
To describe and evaluate a novel method to determine the validity of measurements made using cycle-by-cycle (CxC) recording techniques in patients with advanced retinal degenerations (RD) having low-amplitude flicker electroretinogram (ERG) responses.
METHODS
The method extends the original CxC recording algorithm introduced by Sieving et al., retaining the original recording setup and the preliminary analysis of raw data. Novel features include extended use of spectrum analysis, reduction of errors due to known sources, and a comprehensive statistical assessment using three different tests. The method was applied to ERG recordings from seven patients with RD and two patients with CNGB3 achromatopsia.
RESULTS
The method was implemented as a Windows application to processes raw data obtained from a commercial ERG system, and it features a computational toolkit for statistical assessment of ERG recordings with amplitudes as low as 1 µV, commonly found in advanced RD patients. When recorded using conditions specific for eliciting cone responses, none of the CNGB3 patients had a CxC validated response, indicating that no signal artifacts were present with our recording conditions. A comparison of the presented method with conventional 30 Hz ERG was performed. Bland-Altman plots indicated good agreement (mean difference, -0.045 µV; limits of agreement, 0.193 to -0.282 µV) between the resulting amplitudes. Within-session test-retest variability was 15%, comparing favorably to the variability of standard ERG amplitudes.
CONCLUSIONS
This novel method extracts highly reliable clinical recordings of low-amplitude flicker ERGs and effectively detects artifactual responses. It has potential value both as a cone outcome variable and planning tool in clinical trials on natural history and treatment of advanced RDs.
Topics: Humans; Electroretinography; Retinal Degeneration; Retinal Cone Photoreceptor Cells; Color Vision Defects; Photic Stimulation; Retina
PubMed: 38558093
DOI: 10.1167/iovs.65.4.3 -
JCI Insight Jan 2024An arginine to cysteine substitution at amino acid position 203 (C203R) is the most common missense mutation in human cone opsin. Linked to color blindness and blue cone...
An arginine to cysteine substitution at amino acid position 203 (C203R) is the most common missense mutation in human cone opsin. Linked to color blindness and blue cone monochromacy (BCM), C203 is involved in a crucial disulfide bond required for proper folding. It has previously been postulated that expression of mutant C203R cone opsin exerts a toxic effect on cone photoreceptors, similar to some well-characterized missense mutations in rhodopsin that lead to protein misfolding. In this study, we generated and characterized a BCM mouse model carrying the equivalent C203R mutation (Opn1mwC198R Opn1sw-/-) to investigate the disease mechanism and develop a gene therapy approach for this disorder. Untreated Opn1mwC198R Opn1sw-/- cones phenocopied affected cones in human patients with the equivalent mutation, exhibiting shortened or absent cone outer segments and loss of function. We determined that gene augmentation targeting cones specifically yielded robust rescue of cone function and structure when Opn1mwC198R Opn1sw-/- mice were treated at early ages. Importantly, treated cones displayed elaborated outer segments and replenished expression of crucial cone phototransduction proteins. Interestingly, we were unable to detect OPN1MWC198R mutant opsin at any age. We believe this is the first proof-of-concept study exploring the efficacy of gene therapy in BCM associated with a C203R mutation.
Topics: Humans; Animals; Mice; Retinal Cone Photoreceptor Cells; Mutation, Missense; Cone Opsins; Rhodopsin; Color Vision Defects
PubMed: 38060327
DOI: 10.1172/jci.insight.172834 -
PloS One 2024During the machine vision inspection of the inner section of bottle caps within pharmaceutical packaging, the unique conca bottom and convex side walls often create...
During the machine vision inspection of the inner section of bottle caps within pharmaceutical packaging, the unique conca bottom and convex side walls often create obstructions to the illumination. Consequently, this results in challenges such as irregular background and diminished feature contrast in the image, ultimately leading to the misidentification of defects. As a solution, a vision system characterized by a Low-Angle and Large Divergence Angle (LALDA) is presented in this paper. Using the large divergence angle of LED, combined with low-angle illumination, a uniform image of the side wall region with bright-field characteristics and a uniform image of inner circle region at the bottom with dark-field characteristics are obtained, thus solving the problems of light being obscured and brightness overexposure of the background. Based on the imaging characteristics of LALDA, a multi-channel segmentation (MCS) algorithm is designed. The HSV color space has been transformed, and the image is automatically segmented into multiple sub-regions by mutual calculation of different channels. Further, image homogenization and enhancement are used to eliminate fluctuations in the background and to enhance the contrast of defects. In addition, a variety of defect extraction methods are designed based on the imaging characteristics of different sub-regions, which can avoid the problem of over-segmentation in detection. In this paper, the LALDA is applied to the defect detection inside the cap of capsule medicine bottle, the detection speed is better than 400 pcs/min and the detection accuracy is better than 95%, which can meet the actual production line capacity and detection requirements.
Topics: Algorithms; Drug Packaging; Image Processing, Computer-Assisted; Lighting
PubMed: 38820479
DOI: 10.1371/journal.pone.0303744 -
Vision Research May 2024EnChroma filters are aids designed to improve color vision for anomalous trichromats. Their use is controversial because the results of lab-based assessments of their...
EnChroma filters are aids designed to improve color vision for anomalous trichromats. Their use is controversial because the results of lab-based assessments of their effectiveness have so far largely failed to agree with positive anecdotal reports. However, the effectiveness of EnChroma filters will vary depending on the conditions of viewing, including whether the stimuli are broadband reflective surfaces or colors presented on RGB displays, whether illumination spectra are broadband or narrowband, the transmission spectra of particular filters, and the cone spectral sensitivity functions of the observer. We created a model of anomalous trichromatic color vision to predict the effects of EnChroma filters on the color signals impaired in anomalous trichromacy. Using the model we varied illumination, filter type and observer cone sensitivity functions, and tested the effect of presenting colors as broadband reflective surfaces or on RGB displays. We also used hyperspectral images to assess the impact of the filters on anomalous trichromats' color vision for natural scenes. Model results predicted that the filters should be broadly effective at enhancing anomalous trichromats' equivalent to L/(L + M) chromatic contrasts under a range of viewing conditions, but are substantially more effective for deuteranomals than for protanomals. The filters are predicted to be more effective for broadband reflective surfaces presented under broadband illuminants than for surfaces presented under narrowband illuminants or for colors presented on RGB displays. Since the potential impacts of contrast adaptation and perceptual learning are not considered in the model, it needs to be empirically validated. Results of empirical tests of the effects of EnChroma filters on deuteranomalous color vision in comparison with model predictions are presented in an accompanying paper (Somers et al., in prep.).
Topics: Humans; Color Perception; Color Perception Tests; Color Vision Defects; Retinal Cone Photoreceptor Cells; Color Vision; Color
PubMed: 38522412
DOI: 10.1016/j.visres.2024.108381 -
BMC Pediatrics Jan 2024Color vision deficiency is a common X-linked genetic disorder affecting the day-to-day lives of individuals, in which school-aged children's academic performance can be...
Color vision deficiency is a common X-linked genetic disorder affecting the day-to-day lives of individuals, in which school-aged children's academic performance can be negatively affected. The aim of this study was to evaluate the prevalence and genotypic frequency of congenital color vision defects (CVD), among primary schoolchildren in Adama, Ethiopia. A school-based cross-sectional study design was used. Students were purposively selected based on their ethnicity but were randomly selected from their sections, resulting in a final sample size estimated at 846 schoolchildren who had received informed consent from their families. Data was gathered using the Ishihara color vision test, 38-plate edition. The result of the study revealed that the total prevalence of CVD was much higher (5.6%) among the male children than that of the females, which was only about 1.79%. The prevalence rates of CVD among the targeted ethnic groups were found to be the highest among Amhara (7.45%) > Oromo (5.00%) > Gurage (2.13%) children, respectively, in descending order. 62.76% of the study subjects were homozygous dominant (AA), followed by those with a heterozygous genotype (Aa) (32.51%), and the remaining 4.73% had recessive (aa) genes.
Topics: Child; Female; Humans; Male; Color Vision Defects; Ethiopia; Cross-Sectional Studies; Prevalence; Genotype; Cardiovascular Diseases
PubMed: 38254053
DOI: 10.1186/s12887-024-04529-0 -
Vision Research May 2024Manufacturers of notch filter-based aids for color vision claim that their products can enhance color perception for people with anomalous trichromacy, a form of color...
Manufacturers of notch filter-based aids for color vision claim that their products can enhance color perception for people with anomalous trichromacy, a form of color vision deficiency (CVD). Anecdotal reports imply that people with CVD can have radically enhanced color vision when using the filters. However, existing empirical research largely focussed on the effect of notch filters on performance on diagnostic tests for CVD has not found that they have any substantial effect. Informed by a model of anomalous trichromatic color vision, we selected stimuli predicted to reveal the effects of EnChroma filters. Using these stimuli, we tested the ability of EnChroma filters to enhance color vision for 10 deuteranomalous trichromats in three experiments: 1. asymmetric color matching between test and control filter conditions, 2. color discrimination measured using four alternative forced-choice, and 3. color appearance measured using dissimilarity ratings to reconstruct subjective color spaces using multidimensional scaling. To investigate potential effects of long-term adaptation or perceptual learning, participants completed all three experiments at two time points, on first exposure to the filters, and after a week of regular use. We found a significant effect of the filters on color matches in the direction predicted by the model at both time points, implying that the filters can enhance the anomalous trichromatic color gamut. However, we found minimal effect of the filters on color discrimination at threshold. We found a significant effect of the filters in enhancing the appearance of colors along the red-green axis at the first time point, and a trend in the same direction at the second time point. Our results provide the first quantitative experimental evidence that notch filters can enhance color perception for anomalous trichromats.
Topics: Humans; Color Vision; Color Perception Tests; Color Vision Defects; Color Perception; Cardiovascular Diseases; Color
PubMed: 38531192
DOI: 10.1016/j.visres.2024.108390 -
Taiwan Journal of Ophthalmology 2024Ocular comorbidities can happen as congenital defective gene associations. We present a 37-year-old female patient who was mentally challenged and had coexisting...
Ocular comorbidities can happen as congenital defective gene associations. We present a 37-year-old female patient who was mentally challenged and had coexisting achromatopsia gene abnormality on genetic analysis. She was operated in childhood for congenital cataract, and posterior chamber intraocular lens (IOL) was implanted at 10 years of age elsewhere. The patient presented 27 years later with luxated IOL with endothelial decompensation. There was a coexisting steep and thin cornea noted on corneal topography. She was managed with pre-Descemet's endothelial keratoplasty with transpositioning of posterior chamber IOL to glued IOL with single-pass four-throw pupilloplasty. Postoperatively, the cornea was clear with centered glued IOL. The lesser postanesthetic challenges and faster rehabilitation are obtained in combination procedures with reduced complications in such rare scenarios.
PubMed: 38655000
DOI: 10.4103/tjo.TJO-D-23-00172 -
Polymers Apr 2024Roll-to-roll (R2R) manufacturing depends on a system's capability to deposit high-quality coatings with precise thickness, width, and uniformity. Therefore, consistent...
Roll-to-roll (R2R) manufacturing depends on a system's capability to deposit high-quality coatings with precise thickness, width, and uniformity. Therefore, consistent maintenance requires the immediate and accurate detection of coating defects. This study proposes a primary color selection (PCS) method to detect edge defects in R2R systems. This method addresses challenges associated with training data demands, complexity, and defect adaptability through a vision data-centric approach, ensuring precise edge coating defect detection. Using color information, high accuracy was achieved while minimizing data capacity requirements and processing time. Precise edge detection was facilitated by accurately distinguishing coated and noncoated regions by selecting the primary color channel based on color variability. The PCS method achieved superior accuracy (95.8%), outperforming the traditional weighted sum method (78.3%). This method is suitable for real-time detection in manufacturing systems and mitigates edge coating defects, thus facilitating quality control and production optimization.
PubMed: 38675075
DOI: 10.3390/polym16081156 -
Journal of Imaging Jun 2024Thanks to the line-scanning camera, the measurement method based on line-scanning stereo vision has high optical accuracy, data transmission efficiency, and a wide field...
Thanks to the line-scanning camera, the measurement method based on line-scanning stereo vision has high optical accuracy, data transmission efficiency, and a wide field of vision. It is more suitable for continuous operation and high-speed transmission of industrial product detection sites. However, the one-dimensional imaging characteristics of the line-scanning camera cause motion distortion during image data acquisition, which directly affects the accuracy of detection. Effectively reducing the influence of motion distortion is the primary problem to ensure detection accuracy. To obtain the two-dimensional color image and three-dimensional contour data of the heavy rail surface at the same time, a binocular color line-scanning stereo vision system is designed to collect the heavy rail surface data combined with the bright field illumination of the symmetrical linear light source. Aiming at the image motion distortion caused by system installation error and collaborative acquisition frame rate mismatch, this paper uses the checkerboard target and two-step cubature Kalman filter algorithm to solve the nonlinear parameters in the motion distortion model, estimate the real motion, and correct the image information. The experiments show that the accuracy of the data contained in the image is improved by 57.3% after correction.
PubMed: 38921621
DOI: 10.3390/jimaging10060144