ArticlePloS one2014
Visual sensorial impairments in neurodevelopmental disorders: evidence for a retinal phenotype in Fragile X Syndrome.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome.Journal of neurodevelopmental disorders · 2026Article
- Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations.International journal of molecular sciences · 2025Article
- Atypical Retinal Ganglion Cell Function in a Mouse Model of Fragile X Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Ocular manifestations in autism spectrum disorder.International journal of ophthalmology · 2025Review
- Can optic nerve morphology in children with autism spectrum disorder be associated with atypical visual-sensory behaviors?Frontiers in psychiatry · 2025Article
- Retinal electrophysiology in central nervous system disorders. A review of human and mouse studies.Frontiers in neuroscience · 2023Review
- Abnormal sensory perception masks behavioral performance of Grin1 knockdown mice.Genes, brain, and behavior · 2022Article
- Review
- The Influence of Maternal Metabolic State and Nutrition on Offspring Neurobehavioral Development: A Focus on Preclinical Models.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2022Review
- Restoration of FMRP expression in adult V1 neurons rescues visual deficits in a mouse model of fragile X syndrome.Protein & cell · 2022Article
- Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity.Human molecular genetics · 2022Article
- Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome.Journal of neurodevelopmental disorders · 2021Article
- Molecular Mechanisms Related to Oxidative Stress in Retinitis Pigmentosa.Antioxidants (Basel, Switzerland) · 2021Review
- The mouse model of fragile X syndrome exhibits deficits in contagious itch behavior.Scientific reports · 2020Article
- Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder.Journal of autism and developmental disorders · 2020Article
- Atypical visual processing in a mouse model of autism.Scientific reports · 2020Article
- Cellular localization of the FMRP in rat retina.Bioscience reports · 2020Article
- Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa.Antioxidants (Basel, Switzerland) · 2020Article
- Visual Behavior Impairments as an Aberrant Sensory Processing in the Mouse Model of Fragile X Syndrome.Frontiers in behavioral neuroscience · 2019Article
- Spontaneous Activity Patterns Are Altered in the Developing Visual Cortex of theFrontiers in neural circuits · 2019Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Visual sensory impairments are common in Mental Deficiency (MD) and Autism Spectrum Disorder (ASD). These defects are linked to cerebral dysfunction in the visual cortical area characterized by the deregulation of axon growth/guidance and dendrite spine immaturity of neurons. However, visual perception had not been addressed, although the retina is part of the central nervous system with a common embryonic origin. Therefore, we investigated retinal perception, the first event of vision, in a murine model of MD with autistic features. We document that retinal function is altered in Fmr1 KO mice, a model of human Fragile X Syndrome. Indeed, In Fmr1 KO mice had a lower retinal function characterized by a decreased photoreceptors neuron response, due to a 40% decrease in Rhodopsin content and to Rod Outer Segment destabilization. In addition, we observed an alteration of the visual signal transmission between photoreceptors and the inner retina which could be attributed to deregulations of pre- and post- synaptic proteins resulting in retinal neurons synaptic destabilization and to retinal neurons immaturity. Thus, for the first time, we demonstrated that retinal perception is altered in a murine model of MD with autistic features and that there are strong similarities between cerebral and retinal cellular and molecular defects. Our results suggest that both visual perception and integration must be taken into account in assessing visual sensory impairments in MD and ASD.
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