title: Visual sensorial impairments in neurodevelopmental disorders: evidence for a retinal phenotype in Fragile X Syndrome.
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.
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France.
authors.forename: Rafaëlle
authors.initials: R
authors.lastname: Rossignol
authors.affiliation: Laboratory of Sensorial Biophysical, University of Clermont 1, Clermont-Ferrand, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Ranchon-Cole
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Pâris
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France.
authors.forename: Ameziane
authors.initials: A
authors.lastname: Herzine
authors.affiliation: Genetic Department, Regional Hospital, Orléans, France.
authors.forename: Astrid
authors.initials: A
authors.lastname: Perche
authors.affiliation: Genetic Department, Regional Hospital, Orléans, France.
authors.forename: David
authors.initials: D
authors.lastname: Laurenceau
authors.affiliation: Laboratory of Sensorial Biophysical, University of Clermont 1, Clermont-Ferrand, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Bertrand
authors.affiliation: Laboratory of Sensorial Biophysical, University of Clermont 1, Clermont-Ferrand, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Cercy
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Pichon
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mortaud
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France; Genetic Department, Regional Hospital, Orléans, France.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Briault
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Menuet
authors.affiliation: UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France; Genetic Department, Regional Hospital, Orléans, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Perche
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D010641:Phenotype; D012160:Retina / Q000378:metabolism / Q000503:physiopathology*; D012243:Rhodopsin / Q000235:genetics* / Q000378:metabolism; D014796:Visual Perception / Q000502:physiology*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D012243:Rhodopsin; C497684:Fmr1 protein, mouse