title: Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.
abstract: OBJECTIVE
  Neurofibromatosis type 1 (NF1) is a monogenic disorder with the majority of patients presenting subtle to moderate cognitive impairments. Visuospatial deficits are considered to be one of the hallmark characteristics of their cognitive profile. However, low-level visual processing has not been previously investigated. Our aim was to study contrast perception in these patients to assess the function of early visual areas.
  
  
  METHODS
  Contrast sensitivity was tested in 19 children and adolescents with NF1 and 33 control children and adolescents and 12 adults with NF1 and 24 control adults. The tasks used probed two achromatic spatiotemporal frequency channels and chromatic red-green and blue-yellow pathways.
  
  
  RESULTS
  Individuals with NF1 showed significant contrast sensitivity deficits for the achromatic higher spatial frequency channel [F(₁,₈₃) = 36.1, P < 0.001] and for the achromatic low spatial high temporal (magnocellular) frequency channel [F(₁,₇₂) = 8.0, P < 0.01]. Furthermore, individuals with NF1 presented a significant deficit in chromatic red-green (parvocellular) contrast sensitivity (P < 0.01) but not in blue-yellow (koniocelular) sensitivity. The decrease in achromatic sensitivity for higher spatial frequency was observed throughout the visual field, in both central and peripheral locations. In contrast, central contrast sensitivity for the magnocellular-biased condition was relatively preserved and only peripheral sensitivity was affected. Interestingly, the same pattern of deficits was found in both age groups tested.
  
  
  CONCLUSIONS
  These findings showed that contrast sensitivity is impaired in patients with NF1, associating for the first time abnormal low-level vision to the cognitive profile of this disorder.
authors.affiliation: Visual Neuroscience Laboratory, Institute of Biomedical Research in Light and Image, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. mjribeiro@fmed.uc.pt
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Ribeiro
authors.forename: Inês Ribeiro
authors.initials: IR
authors.lastname: Violante
authors.forename: Inês
authors.initials: I
authors.lastname: Bernardino
authors.forename: Fabiana
authors.initials: F
authors.lastname: Ramos
authors.forename: Jorge
authors.initials: J
authors.lastname: Saraiva
authors.forename: Pablo
authors.initials: P
authors.lastname: Reviriego
authors.forename: Meena
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: Eduardo Duarte
authors.initials: ED
authors.lastname: Silva
authors.forename: Miguel
authors.initials: M
authors.lastname: Castelo-Branco
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000150:complications* / Q000503:physiopathology; D015350:Contrast Sensitivity / Q000502:physiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D025542:Neurofibromin 1 / Q000235:genetics; D014786:Vision Disorders / Q000150:complications* / Q000503:physiopathology; D014795:Visual Pathways / Q000503:physiopathology
chemical_list: D025542:Neurofibromin 1