title: Congenital blindness affects diencephalic but not mesencephalic structures in the human brain.
abstract: While there is ample evidence that the structure and function of visual cortical areas are affected by early visual deprivation, little is known of how early blindness modifies subcortical relay and association thalamic nuclei, as well as mesencephalic structures. Therefore, in the present multicenter study, we used MRI to measure volume of the superior and inferior colliculi, as well as of the thalamic nuclei relaying sensory and motor information to the neocortex, parcellated according to atlas-based thalamo-cortical connections, in 29 individuals with congenital blindness of peripheral origin (17 M, age 35.7 ± 14.3 years) and 29 sighted subjects (17 M, age 31.9 ± 9.0). Blind participants showed an overall volume reduction in the left (p = 0.008) and right (p = 0.007) thalami, as compared to the sighted individuals. Specifically, the lateral geniculate (i.e., primary visual thalamic relay nucleus) was 40% reduced (left: p = 4 × 10(-6), right: p < 1 × 10(-6)), consistent with findings from animal studies. In addition, associated thalamic nuclei that project to temporal (left: p = 0.005, right: p = 0.005), prefrontal (left: p = 0.010, right: p = 0.014), occipital (left: p = 0.005, right: p = 0.023), and right premotor (p = 0.024) cortical regions were also significantly reduced in the congenitally blind group. Conversely, volumes of the relay nuclei directly involved in auditory, motor, and somatosensory processing were not affected by visual deprivation. In contrast, no difference in volume was observed in either the superior or the inferior colliculus between the two groups. Our findings indicate that visual loss since birth leads to selective volumetric changes within diencephalic, but not mesencephalic, structures. Both changes in reciprocal cortico-thalamic connections or modifications in the intrinsic connectivity between relay and association nuclei of the thalamus may contribute to explain these alterations in thalamic volumes. Sparing of the superior colliculi is in line with their composite, multisensory projections, and with their not exclusive visual nature.
authors.affiliation: Laboratory of Clinical Biochemistry and Molecular Biology, Department of Surgery, Medical, Molecular Pathology, and Critical Area, University of Pisa, Pisa, Italy.|Clinical Psychology Branch, Pisa University Hospital, Pisa, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Cecchetti
authors.affiliation: Laboratory of Clinical Biochemistry and Molecular Biology, Department of Surgery, Medical, Molecular Pathology, and Critical Area, University of Pisa, Pisa, Italy. emiliano.ricciardi@bioclinica.unipi.it.
authors.forename: Emiliano
authors.initials: E
authors.lastname: Ricciardi
authors.affiliation: Laboratory of Clinical Biochemistry and Molecular Biology, Department of Surgery, Medical, Molecular Pathology, and Critical Area, University of Pisa, Pisa, Italy.|Clinical Psychology Branch, Pisa University Hospital, Pisa, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Handjaras
authors.affiliation: BRAINlab, Department of Neuroscience and Pharmacology, Panum Institute, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Ron
authors.initials: R
authors.lastname: Kupers
authors.affiliation: BRAINlab, Department of Neuroscience and Pharmacology, Panum Institute, University of Copenhagen, Copenhagen, Denmark.|Harland Sanders Chair, School of Optometry, University of Montreal, Montreal, Canada.|Laboratory of Neuropsychiatry, Psychiatric Centre Copenhagen and Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Maurice
authors.initials: M
authors.lastname: Ptito
authors.affiliation: Laboratory of Clinical Biochemistry and Molecular Biology, Department of Surgery, Medical, Molecular Pathology, and Critical Area, University of Pisa, Pisa, Italy.|Clinical Psychology Branch, Pisa University Hospital, Pisa, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Pietrini
mesh_terms: D000328:Adult; D001766:Blindness / Q000151:congenital*; D004027:Diencephalon / Q000473:pathology*; D005260:Female; D006801:Humans; D007245:Inferior Colliculi / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008636:Mesencephalon / Q000473:pathology*; D008875:Middle Aged; D019579:Neocortex / Q000473:pathology; D013477:Superior Colliculi / Q000473:pathology; D013788:Thalamus / Q000473:pathology; D055815:Young Adult
keywords: Congenital blindness; Lateral geniculate nucleus; Morphometry; Superior colliculus; Thalamus