Pub Date : 2025-03-02DOI: 10.1016/j.visres.2025.108564
Robert Shapley , Valerie Nunez , James Gordon
Evoked potentials measured from human visual cortex reveal that, in humans as in other primates, color is represented in the cortex mostly by neurons that are spatially-tuned. This means that color perception is most affected by spatial patterns of color and by the color difference across the boundaries of colored regions. The evidence from cortical evoked responses also supports the concept that the cortex does away with the strict segregation of color and luminance signals, and of red-green vs blue-yellow signals, that is present in its thalamic input. Rather, all combinations of cardinal direction signals are used by the population of spatially-tuned, color-responsive cortical neurons in the visual cortex. The neural populations that combine color signals are sometimes called Higher Order Color Mechanisms. These fundamental findings about color processing in the cortex challenge the classical theory of opponent colors. Also, they show that color is computed in combination with space and form, not separately.
{"title":"Cortical processing of color: Chromatic visual evoked potentials","authors":"Robert Shapley , Valerie Nunez , James Gordon","doi":"10.1016/j.visres.2025.108564","DOIUrl":"10.1016/j.visres.2025.108564","url":null,"abstract":"<div><div>Evoked potentials measured from human visual cortex reveal that, in humans as in other primates, color is represented in the cortex mostly by neurons that are spatially-tuned. This means that color perception is most affected by spatial patterns of color and by the color difference across the boundaries of colored regions. The evidence from cortical evoked responses also supports the concept that the cortex does away with the strict segregation of color and luminance signals, and of red-green vs blue-yellow signals, that is present in its thalamic input. Rather, all combinations of cardinal direction signals are used by the population of spatially-tuned, color-responsive cortical neurons in the visual cortex. The neural populations that combine color signals are sometimes called Higher Order Color Mechanisms. These fundamental findings about color processing in the cortex challenge the classical theory of opponent colors. Also, they show that color is computed in combination with space and form, not separately.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"229 ","pages":"Article 108564"},"PeriodicalIF":1.5,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143529393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-24DOI: 10.1016/j.visres.2025.108566
Xinran A. Yu, Livia F. Fischer, Dietrich S. Schwarzkopf
Previous research suggests the magnitudes of the Ebbinghaus, Delboeuf, Ponzo, and tilt illusions all depend on the cortical distance between the neural representations of target stimuli and the surrounding context. However, several psychophysical studies found no compelling association between these illusions, calling this hypothesis into question. Here we ask if these discrepant reports could arise from methodological differences between these studies. We ran a battery of visual size illusion and basic discrimination tasks with carefully matched geometric properties, using a classic forced-choice design. In our small, homogenous sample, the Ebbinghaus and Delboeuf illusion magnitudes were strongly correlated, consistent with the idea that they reflect the same underlying mechanism when other sources of individual differences are minimised. Ponzo illusion magnitude also correlated with these two illusions, although less strongly in the case of the Ebbinghaus. Interestingly, the classic arrowhead version of the Mueller-Lyer illusion did not correlate with any of the other illusions or even with the objective ability to discriminate line length. This suggests that an altogether separate process underlies this perceptual effect. We further demonstrate that presenting stimuli briefly with central fixation critically affects measurements of the Ebbinghaus illusion. Additionally, we found that measuring illusion magnitude via adjustment is less reliable compared to two-alternative forced-choice procedures. Taken together, our findings suggest that different tasks probe separable processes determining illusion measurements. They further highlight the importance of the experimental design when testing relationships between perceptual effects and their links to neural processing.
{"title":"Closely matched comparisons suggest that separable processes mediate contextual size illusions","authors":"Xinran A. Yu, Livia F. Fischer, Dietrich S. Schwarzkopf","doi":"10.1016/j.visres.2025.108566","DOIUrl":"10.1016/j.visres.2025.108566","url":null,"abstract":"<div><div>Previous research suggests the magnitudes of the Ebbinghaus, Delboeuf, Ponzo, and tilt illusions all depend on the cortical distance between the neural representations of target stimuli and the surrounding context. However, several psychophysical studies found no compelling association between these illusions, calling this hypothesis into question. Here we ask if these discrepant reports could arise from methodological differences between these studies. We ran a battery of visual size illusion and basic discrimination tasks with carefully matched geometric properties, using a classic forced-choice design. In our small, homogenous sample, the Ebbinghaus and Delboeuf illusion magnitudes were strongly correlated, consistent with the idea that they reflect the same underlying mechanism when other sources of individual differences are minimised. Ponzo illusion magnitude also correlated with these two illusions, although less strongly in the case of the Ebbinghaus. Interestingly, the classic arrowhead version of the Mueller-Lyer illusion did not correlate with any of the other illusions or even with the objective ability to discriminate line length. This suggests that an altogether separate process underlies this perceptual effect. We further demonstrate that presenting stimuli briefly with central fixation critically affects measurements of the Ebbinghaus illusion. Additionally, we found that measuring illusion magnitude via adjustment is less reliable compared to two-alternative forced-choice procedures. Taken together, our findings suggest that different tasks probe separable processes determining illusion measurements. They further highlight the importance of the experimental design when testing relationships between perceptual effects and their links to neural processing.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"229 ","pages":"Article 108566"},"PeriodicalIF":1.5,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143479947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-08DOI: 10.1016/j.visres.2025.108560
Masaki Mori , Takamichi Sushida , Shintaro Kondo
This study investigated the spatial properties of the scintillating grid illusion through three visual experiments and numerical simulations using differential equations. Experiment 1 was conducted to confirm that the scintillating grid illusion occurred in the peripheral vision under binocular viewing. The results showed that illusory blackness was perceived on the white disk at the horizontal viewing angles of , , and degrees stronger than and degrees. Experiment 2 investigated the area where the scintillating grid illusion occurred not only in the horizontal orientation but also in the vertical orientation. The results showed that the area of the scintillating grid illusion was farther from the fixation point in the horizontal orientation than in the vertical orientation under binocular viewing. Experiment 3 examined the spatial properties of the scintillating grid illusion under monocular viewing, revealing that the area of the scintillating grid illusion was wider in the horizontal orientation than in the vertical orientation. These results suggest that the scintillating grid illusion has spatial anisotropy, regardless of binocular or monocular viewing. Based on the findings in the visual experiments and electrophysiology, this study improved a mathematical model using differential equations for retinal information processing. The improved model demonstrated the results of numerical simulations similar to the spatial properties of the scintillating grid illusion under experimental results. The numerical simulations suggested that the blurring and inhibitory effects could be involved in the spatial properties of the scintillating grid illusion.
{"title":"Spatial properties of scintillating grid illusion through visual experiments and numerical simulations","authors":"Masaki Mori , Takamichi Sushida , Shintaro Kondo","doi":"10.1016/j.visres.2025.108560","DOIUrl":"10.1016/j.visres.2025.108560","url":null,"abstract":"<div><div>This study investigated the spatial properties of the scintillating grid illusion through three visual experiments and numerical simulations using differential equations. Experiment 1 was conducted to confirm that the scintillating grid illusion occurred in the peripheral vision under binocular viewing. The results showed that illusory blackness was perceived on the white disk at the horizontal viewing angles of <span><math><mrow><mo>±</mo><mn>6</mn><mo>.</mo><mn>0</mn></mrow></math></span>, <span><math><mrow><mo>±</mo><mn>9</mn><mo>.</mo><mn>0</mn></mrow></math></span>, and <span><math><mrow><mo>±</mo><mn>12</mn><mo>.</mo><mn>0</mn></mrow></math></span> degrees stronger than <span><math><mrow><mo>±</mo><mn>0</mn><mo>.</mo><mn>6</mn></mrow></math></span> and <span><math><mrow><mo>±</mo><mn>3</mn><mo>.</mo><mn>0</mn></mrow></math></span> degrees. Experiment 2 investigated the area where the scintillating grid illusion occurred not only in the horizontal orientation but also in the vertical orientation. The results showed that the area of the scintillating grid illusion was farther from the fixation point in the horizontal orientation than in the vertical orientation under binocular viewing. Experiment 3 examined the spatial properties of the scintillating grid illusion under monocular viewing, revealing that the area of the scintillating grid illusion was wider in the horizontal orientation than in the vertical orientation. These results suggest that the scintillating grid illusion has spatial anisotropy, regardless of binocular or monocular viewing. Based on the findings in the visual experiments and electrophysiology, this study improved a mathematical model using differential equations for retinal information processing. The improved model demonstrated the results of numerical simulations similar to the spatial properties of the scintillating grid illusion under experimental results. The numerical simulations suggested that the blurring and inhibitory effects could be involved in the spatial properties of the scintillating grid illusion.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"228 ","pages":"Article 108560"},"PeriodicalIF":1.5,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143372473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-04DOI: 10.1016/j.visres.2025.108551
Alice Price, Georgina Powell, Petroc Sumner
To assess visual discomfort, researchers can use questionnaires that require people to self-reflect on their real-world experiences, or researchers can present images and ask for ratings of discomfort while they are viewed. These two methods are conceptualised to measure a similar construct, but they tend to show surprisingly low correlation. A possible reason is that, when viewing the images, people do not know how to calibrate their answers on a standard discomfort scale, because it requires implicit comparison of one’s own perception with others (e.g., is my perception unusually uncomfortable?). Here we compared standard discomfort ratings with functional questions that aimed to aid calibration (e.g. I would need to immediately look away; I could tolerate it as a poster; I could live with it as wallpaper). We found correlation with questionnaire questions about stripes and patterns improved with the functional style of question. We conclude that functional questions are helpful for assessing visual discomfort.
{"title":"Low correlation between visual discomfort image ratings and hypersensitivity questions is improved with functional questions","authors":"Alice Price, Georgina Powell, Petroc Sumner","doi":"10.1016/j.visres.2025.108551","DOIUrl":"10.1016/j.visres.2025.108551","url":null,"abstract":"<div><div>To assess visual discomfort, researchers can use questionnaires that require people to self-reflect on their real-world experiences, or researchers can present images and ask for ratings of discomfort while they are viewed. These two methods are conceptualised to measure a similar construct, but they tend to show surprisingly low correlation. A possible reason is that, when viewing the images, people do not know how to calibrate their answers on a standard discomfort scale, because it requires implicit comparison of one’s own perception with others (e.g., <em>is my perception unusually uncomfortable?).</em> Here we compared standard discomfort ratings with functional questions that aimed to aid calibration (e.g. <em>I would need to immediately look away; I could tolerate it as a poster; I could live with it as wallpaper</em>). We found correlation with questionnaire questions about stripes and patterns improved with the functional style of question. We conclude that functional questions are helpful for assessing visual discomfort.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"228 ","pages":"Article 108551"},"PeriodicalIF":1.5,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.visres.2024.108533
Suva Roy
Glaucoma comprises a heterogeneous set of eye conditions that cause progressive vision loss. Glaucoma has a complex etiology, with different genetic and non-genetic risk factors that differ across populations. Although difficult to diagnose in early stages, compromised cellular signaling, dysregulation of genes, and homeostatic imbalance are common precursors to injury and subsequent death of retinal ganglion cells (RGCs). Lowering intraocular pressure (IOP) remains the primary approach for managing glaucoma but IOP alone does not explain all glaucoma risks. Orthogonal approaches such as large-scale genetic screening, combined with studies of animal models have been instrumental in identifying genes and molecular pathways involved in glaucoma pathogenesis. Cell type dependent vulnerability among RGCs can reveal genetic basis for specific visual deficits. A growing body of knowledge and availability of modern tools to perform targeted assessments of cellular health in different animal models facilitate development of effective and timely interventions for vision rescue. This review highlights recent findings on genes, molecules, and cell types in the context of glaucoma pathophysiology and treatment.
{"title":"Emerging strategies targeting genes and cells in glaucoma","authors":"Suva Roy","doi":"10.1016/j.visres.2024.108533","DOIUrl":"10.1016/j.visres.2024.108533","url":null,"abstract":"<div><div>Glaucoma comprises a heterogeneous set of eye conditions that cause progressive vision loss. Glaucoma has a complex etiology, with different genetic and non-genetic risk factors that differ across populations. Although difficult to diagnose in early stages, compromised cellular signaling, dysregulation of genes, and homeostatic imbalance are common precursors to injury and subsequent death of retinal ganglion cells (RGCs). Lowering intraocular pressure (IOP) remains the primary approach for managing glaucoma but IOP alone does not explain all glaucoma risks. Orthogonal approaches such as large-scale genetic screening, combined with studies of animal models have been instrumental in identifying genes and molecular pathways involved in glaucoma pathogenesis. Cell type dependent vulnerability among RGCs can reveal genetic basis for specific visual deficits. A growing body of knowledge and availability of modern tools to perform targeted assessments of cellular health in different animal models facilitate development of effective and timely interventions for vision rescue. This review highlights recent findings on genes, molecules, and cell types in the context of glaucoma pathophysiology and treatment.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"227 ","pages":"Article 108533"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.visres.2025.108544
Carla Andreia Abreu , Gabriel Ferraz , Rômulo C. dos Santos , Luciana Conde , Danillo P. Dantas , Bráulio S. Archanjo , Rafael Linden , Pedro M. Pimentel-Coelho , Silvana Allodi
Elevated intraocular pressure (IOP) is a significant risk factor for glaucoma, causing structural and functional damage to the eye. Increased IOP compromises the metabolic and structural integrity of retinal ganglion cell (RGC) axons, leading to progressive degeneration and influencing the ocular immune response. This study investigated early cellular and molecular changes in the retina and optic nerve (ON) following ocular hypertension (OHT). A pigmented rat model was used, with OHT induced through low-temperature cauterization of the limbal vascular plexus. To assess the effects at early time points after OHT, transmission electron microscopy (TEM) was employed to analyze ultrastructural changes in the retina and ON, while immunofluorescence was used to evaluate cellular responses. Flow cytometry was used to examine alterations in immune-cell populations. Within 24 h post-OHT, ultrastructural changes were detected in the cytoplasm of RGCs, indicating early cellular alterations undetectable by conventional microscopy. These ultrastructural modifications progressed further at 48 and 72 h, despite the absence of overt RGC loss or disruptions in retinal layer integrity. Changes in the axons and nodes of Ranvier were evident within the first 24 h after ocular hypertension, becoming more pronounced by 72 h. These findings offer novel insights into the early pathogenesis of glaucoma, highlighting critical early impacts that could guide the development of new therapeutic strategies to prevent irreversible RGC loss.
{"title":"Early ultrastructural damage in retina and optic nerve following intraocular pressure elevation","authors":"Carla Andreia Abreu , Gabriel Ferraz , Rômulo C. dos Santos , Luciana Conde , Danillo P. Dantas , Bráulio S. Archanjo , Rafael Linden , Pedro M. Pimentel-Coelho , Silvana Allodi","doi":"10.1016/j.visres.2025.108544","DOIUrl":"10.1016/j.visres.2025.108544","url":null,"abstract":"<div><div>Elevated intraocular pressure (IOP) is a significant risk factor for glaucoma, causing structural and functional damage to the eye. Increased IOP compromises the metabolic and structural integrity of retinal ganglion cell (RGC) axons, leading to progressive degeneration and influencing the ocular immune response. This study investigated early cellular and molecular changes in the retina and optic nerve (ON) following ocular hypertension (OHT). A pigmented rat model was used, with OHT induced through low-temperature cauterization of the limbal vascular plexus. To assess the effects at early time points after OHT, transmission electron microscopy (TEM) was employed to analyze ultrastructural changes in the retina and ON, while immunofluorescence was used to evaluate cellular responses. Flow cytometry was used to examine alterations in immune-cell populations. Within 24 h post-OHT, ultrastructural changes were detected in the cytoplasm of RGCs, indicating early cellular alterations undetectable by conventional microscopy. These ultrastructural modifications progressed further at 48 and 72 h, despite the absence of overt RGC loss or disruptions in retinal layer integrity. Changes in the axons and nodes of Ranvier were evident within the first 24 h after ocular hypertension, becoming more pronounced by 72 h. These findings offer novel insights into the early pathogenesis of glaucoma, highlighting critical early impacts that could guide the development of new therapeutic strategies to prevent irreversible RGC loss.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"227 ","pages":"Article 108544"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.visres.2024.108517
Michael E. Rudd , Idris Shareef
A neural theory of human lightness computation is described and computer-simulated. The theory proposes that lightness is derived from transient ON and OFF cell responses in the early visual pathways that have different characteristic neural gains and that are generated by fixational eye movements (FEMs) as the eyes transit luminance edges in the image. The ON and OFF responses are combined with corollary discharge signals that encode the eye movement direction to create directionally selective ON and OFF responses. Cortical neurons with large-scale receptive fields independently integrate the outputs of all of the directional ON or OFF responses whose associated eye movement directions point towards their receptive field centers, with a spatial weighting determined by the receptive field profile. Lightness is computed by subtracting the spatially integrated OFF activity from spatially integrated ON activity and normalizing the difference signal so that the maximum response in the spatial lightness map at any given time equals a fixed activation level corresponding to the percept of white. Two different mechanisms for ON and OFF cells responses are considered and simulated, and both are shown to produce an overall lightness model that explains a host of quantitative and qualitative lightness phenomena, including the Staircase Gelb and related illusions, failures of lightness constancy in the simultaneous contrast illusion, Chevreul’s illusion, lightness filling-in, and perceptual fading of stabilized images. The neural plausibility of the two variants of the theory, as well as its implication for lightness constancy and failures of lightness constancy are discussed.
{"title":"Fixational eye movements and edge integration in lightness perception","authors":"Michael E. Rudd , Idris Shareef","doi":"10.1016/j.visres.2024.108517","DOIUrl":"10.1016/j.visres.2024.108517","url":null,"abstract":"<div><div>A neural theory of human lightness computation is described and computer-simulated. The theory proposes that lightness is derived from transient ON and OFF cell responses in the early visual pathways that have different characteristic neural gains and that are generated by fixational eye movements (FEMs) as the eyes transit luminance edges in the image. The ON and OFF responses are combined with corollary discharge signals that encode the eye movement direction to create directionally selective ON and OFF responses. Cortical neurons with large-scale receptive fields independently integrate the outputs of all of the directional ON or OFF responses whose associated eye movement directions point towards their receptive field centers, with a spatial weighting determined by the receptive field profile. Lightness is computed by subtracting the spatially integrated OFF activity from spatially integrated ON activity and normalizing the difference signal so that the maximum response in the spatial lightness map at any given time equals a fixed activation level corresponding to the percept of white. Two different mechanisms for ON and OFF cells responses are considered and simulated, and both are shown to produce an overall lightness model that explains a host of quantitative and qualitative lightness phenomena, including the Staircase Gelb and related illusions, failures of lightness constancy in the simultaneous contrast illusion, Chevreul’s illusion, lightness filling-in, and perceptual fading of stabilized images. The neural plausibility of the two variants of the theory, as well as its implication for lightness constancy and failures of lightness constancy are discussed.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"227 ","pages":"Article 108517"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.visres.2024.108534
Muneeb A. Faiq , Himanshu N. Singh , Mashooq Ali , Rima Dada , Kevin C. Chan , Tanuj Dada , Daman Saluja
CYP1B1 is the most common gene implicated in primary congenital glaucoma (PCG) − the most common form of childhood glaucoma. How CYP1B1 mutations cause PCG is not known. Understanding the mechanism of PCG caused by CYP1B1 mutations is crucial for disease management, therapeutics development, and potential prevention. We performed a comprehensive metabolome/reactome analysis of CYP1B1 to enlist CYP1B1-mediated processes in eye development. The identified metabolic events were classified into major pathways. Functional analysis of these metabolic pathways was performed after cloning the CYP1B1 wild-type gene and expressing the wild-type and selected novel mutants (previously reported by our group L24R, F190L, H279D, and G329D) in heterologous hosts. Stability and enzymatic functions were investigated. Structural modeling of the wild-type and the variants was also performed. Reactome analysis revealed a total of 166 metabolic processes which could be classified into four major pathways including estradiol metabolism, retinoic acid metabolism, arachidonic acid metabolism, and melatonin metabolism. Stability assay revealed rapid denaturing of mutant proteins compared to wild-type. Enzymatic assays showed functional deficit in mutant proteins in metabolizing estradiol, retinoids, arachidonate, and melatonin. Modeling revealed that the examined mutations induced structural changes likely causative in functional loss in CYB1B1 as observed in enzymatic assays. Hence, mutations in the CYP1B1 gene are associated with a functional deficit in critical pathways of eye development. These findings implicate the potential contributions of altered metabolic regulations of estradiol, retinoids, arachidonate and melatonin to the pathogenesis of PCG during the processes of the formation of ocular structures and function.
{"title":"Functional genomics of primary congenital glaucoma by pathway analysis and functional characterization of CYP1B1 mutations","authors":"Muneeb A. Faiq , Himanshu N. Singh , Mashooq Ali , Rima Dada , Kevin C. Chan , Tanuj Dada , Daman Saluja","doi":"10.1016/j.visres.2024.108534","DOIUrl":"10.1016/j.visres.2024.108534","url":null,"abstract":"<div><div>CYP1B1 is the most common gene implicated in primary congenital glaucoma (PCG) − the most common form of childhood glaucoma. How CYP1B1 mutations cause PCG is not known. Understanding the mechanism of PCG caused by CYP1B1 mutations is crucial for disease management, therapeutics development, and potential prevention. We performed a comprehensive metabolome/reactome analysis of CYP1B1 to enlist CYP1B1-mediated processes in eye development. The identified metabolic events were classified into major pathways. Functional analysis of these metabolic pathways was performed after cloning the CYP1B1 wild-type gene and expressing the wild-type and selected novel mutants (previously reported by our group L24R, F190L, H279D, and G329D) in heterologous hosts. Stability and enzymatic functions were investigated. Structural modeling of the wild-type and the variants was also performed. Reactome analysis revealed a total of 166 metabolic processes which could be classified into four major pathways including estradiol metabolism, retinoic acid metabolism, arachidonic acid metabolism, and melatonin metabolism. Stability assay revealed rapid denaturing of mutant proteins compared to wild-type. Enzymatic assays showed functional deficit in mutant proteins in metabolizing estradiol, retinoids, arachidonate, and melatonin. Modeling revealed that the examined mutations induced structural changes likely causative in functional loss in CYB1B1 as observed in enzymatic assays. Hence, mutations in the CYP1B1 gene are associated with a functional deficit in critical pathways of eye development. These findings implicate the potential contributions of altered metabolic regulations of estradiol, retinoids, arachidonate and melatonin to the pathogenesis of PCG during the processes of the formation of ocular structures and function.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"227 ","pages":"Article 108534"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.visres.2025.108541
Jessica L. Parker, A. Caglar Tas
The present study investigated the mechanisms of visual stability using naturalistic scene images. In two experiments, we asked whether the visual system relies on spatial location of the saccade target, as previously found with simple dot stimuli, or relational positions of the objects in the scene during visual stability decisions. Using a modified version of the saccadic suppression of displacement task, we manipulated the information that is displaced in the scene as well as visual stability using intrasaccadic target blanking paradigm. There were four displacement conditions: saccade target, saccade source (Experiment 2 only), whole scene, and background. We also included a no-displacement control condition where everything remained stationary. Participants reported whether they detected any movement. The results showed that spatial displacements that occur in the saccade target object were more easily detected than any other displacements in the scene. Further, disrupting visual stability with blanking only improved displacement detection for the saccade target and saccade source objects, suggesting that saccade target and saccade source objects are both consulted in the establishment of visual stability, most likely due to both receiving selective attention before saccade execution. The present study is the first to show that the visual system uses similar visual stability mechanisms for simple dot stimuli and more naturalistic stimuli.
{"title":"The saccade target is prioritized for visual stability in naturalistic scenes","authors":"Jessica L. Parker, A. Caglar Tas","doi":"10.1016/j.visres.2025.108541","DOIUrl":"10.1016/j.visres.2025.108541","url":null,"abstract":"<div><div>The present study investigated the mechanisms of visual stability using naturalistic scene images. In two experiments, we asked whether the visual system relies on spatial location of the saccade target, as previously found with simple dot stimuli, or relational positions of the objects in the scene during visual stability decisions. Using a modified version of the saccadic suppression of displacement task, we manipulated the information that is displaced in the scene as well as visual stability using intrasaccadic target blanking paradigm. There were four displacement conditions: saccade target, saccade source (Experiment 2 only), whole scene, and background. We also included a no-displacement control condition where everything remained stationary. Participants reported whether they detected any movement. The results showed that spatial displacements that occur in the saccade target object were more easily detected than any other displacements in the scene. Further, disrupting visual stability with blanking only improved displacement detection for the saccade target and saccade source objects, suggesting that saccade target and saccade source objects are both consulted in the establishment of visual stability, most likely due to both receiving selective attention before saccade execution. The present study is the first to show that the visual system uses similar visual stability mechanisms for simple dot stimuli and more naturalistic stimuli.</div></div>","PeriodicalId":23670,"journal":{"name":"Vision Research","volume":"227 ","pages":"Article 108541"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143011335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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