Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 1, 2012, Pages 287-293

  Ribeiro, Maria José ^a   Violante, Inês Ribeiro ^a   Ribeiro, Inês ^a   Bernardino, Iněs ^a   Ramos, Fabiana ^b   Saraiva, Jorge ^b   Reviriego, Pablo ^c   Upadhyaya, Meena ^c   Silva, Eduardo Duarte ^a   Castelo Branco, Miguel ^a  

^a UNIVERSITY OF COIMBRA   (Portugal)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COGNITION; CONTRAST SENSITIVITY; CONTROLLED STUDY; DEPTH PERCEPTION; FEMALE; HUMAN; HUMAN EXPERIMENT; INTELLIGENCE TEST; MALE; MUTATION; NEUROFIBROMATOSIS; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL FIELD; VISUAL IMPAIRMENT; VISUAL SYSTEM; COLOR VISION DEFECT; GENETICS; MIDDLE AGED; PATHOPHYSIOLOGY; PHYSIOLOGY; VISUAL DISORDER;

NEUROFIBROMIN;

ADOLESCENT; ADULT; CHILD; COLOR VISION DEFECTS; CONTRAST SENSITIVITY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; VISION DISORDERS; VISUAL PATHWAYS;

EID: 84859227156     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8225     Document Type: Article

References (44)

1. Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol. 2006;13:2-7.
2. Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037-1044.
3. Levine TM, Materek A, Abel J, O'Donnell M, Cutting LE. Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol. 2006; 13:8-20.
4. Schrimsher GW, Billingsley RL, Slopis JM, Moore BD 3rd. Visualspatial performance deficits in children with neurofibromatosis type-1. Am J Med Genet A. 2003;120A:326-330.
5. Payne JM, Hyman SL, Shores EA, North KN. Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior. Child Neuropsychol. 2011;17:313-329.
6. Huijbregts S, Swaab H, de Sonneville L. Cognitive and motor control in neurofibromatosis type I: influence of maturation and hyperactivity-inattention. Dev Neuropsychol. 2010;35:737-751.
7. Clements-Stephens AM, Rimrodt SL, Gaur P, Cutting LE. Visuospatial processing in children with neurofibromatosis type 1. Neuropsychologia. 2008;46:690-697.
8. Kulikowski JJ, Tolhurst DJ. Psychophysical evidence for sustained and transient detectors in human vision. J Physiol. 1973;232:149-162.
9. Krauskopf J, Williams DR, Heeley DW. Cardinal directions of color space. Vision Res. 1982;22:1123-1131.
10. Callaway EM. Structure and function of parallel pathways in the primate early visual system. J Physiol. 2005;566:13-19.
11. Merigan WH. Chromatic and achromatic vision of macaques: role of the P pathway. J Neurosci. 1989;9:776-783.
12. Merigan WH, Maunsell JH. How parallel are the primate visual pathways? Annu Rev Neurosci. 1993;16:369-402.
13. Hendry SH, Reid RC. The koniocellular pathway in primate vision. Annu Rev Neurosci. 2000;23:127-153.
14. Mullen KT, Dumoulin SO, McMahon KL, de Zubicaray GI, Hess RF. Selectivity of human retinotopic visual cortex to S-cone-opponent, L/M-cone-opponent and achromatic stimulation. Eur J Neurosci. 2007;25:491-502.
15. Vanni S, Henriksson L, Viikari M, James AC. Retinotopic distribution of chromatic responses in human primary visual cortex. Eur J Neurosci. 2006;24:1821-1831.
16. Sincich LC, Park KF, Wohlgemuth MJ, Horton JC. Bypassing V1: a direct geniculate input to area MT. Nat Neurosci. 2004;7:1123-1128.
17. Wandell BA, Poirson AB, Newsome WT, et al. Color signals in human motion-selective cortex. Neuron. 1999;24:901-909.
18. Silva MF, Maia-Lopes S, Mateus C, et al. Retinal and cortical patterns of spatial anisotropy in contrast sensitivity tasks. Vision Res. 2008;48:127-135.
19. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988; 45:575-578.
20. Upadhyaya M, Spurlock G, Kluwe L, et al. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics. 2009;10:251-263.
21. Menezes Rocha AM. Manual da Escala de Inteligência de Wechsler para crianças, de David Wechsler, adaptado e aferido para a população portuguesa por António Menezes Rocha. Lisbon: CEGOC; 2003.
22. Raven JC, Raven J, Court, JH. Manual for Raven's Progressive Matrices and Vocabulary Scales. Oxford, UK: Oxford Psychologists Press; 1993.
23. Benton AL, Hamsher Kde S, Varney NR, Spreen O. Contributions to Neuropsychological Assessment: A Clinical Manual. Oxford, UK: Oxford University Press; 1983.
24. Benton AL, Varney NR, Hamsher KD. Visuospatial judgment. A clinical test. Arch Neurol. 1978;35:364-367.
25. Regan BC, Reffin JP, Mollon JD. Luminance noise and the rapid determination of discrimination ellipses in colour deficiency. Vision Res. 1994;34:1279-1299.
26. Anderson AJ, McKendrick AM. Quantifying adaptation and fatigue effects in frequency doubling perimetry. Invest Ophthalmol Vis Sci. 2007;48:943-948.
27. Griffiths S, Thompson P, Frayling I, Upadhyaya M. Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Fam Cancer. 2007;6:21-34.
28. Ars E, Serra E, Garcia J, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet. 2000;9:237-247.
29. Maynard J, Krawczak M, Upadhyaya M. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet. 1997;99:674-676.
30. Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet. 1997;99:88-92.
31. Toliat MR, Erdogan F, Gewies A, et al. Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. Electrophoresis. 2000;21:541-544.
32. Fahsold R, Hoffmeyer S, Mischung C, et al. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAPrelated domain. Am J Hum Genet. 2000;66:790-818.
33. Osborn MJ, Upadhyaya M. Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. Hum Genet. 1999;105:327-332.
34. Purandare SM, Lanyon WG, Connor JM. Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. Hum Mol Genet. 1994;3:1109-1115.
35. Costa RM, Federov NB, Kogan JH, et al. Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature. 2002;415:526-530.
36. Cui Y, Costa RM, Murphy GG, et al. Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell. 2008; 135:549-560.
37. Shilyansky C, Karlsgodt KH, Cummings DM, et al. Neurofibromin regulates corticostriatal inhibitory networks during working memory performance. Proc Natl Acad Sci USA. 2010;107:13141-13146.
38. Giersch A, Speeg-Schatz C, Tondre M, Gottenkiene S. Impairment of contrast sensitivity in long-term lorazepam users. Psychopharmacology (Berl). 2006;186:594-600.
39. Blin O, Mestre D, Paut O, Vercher JL, Audebert C. GABA-ergic control of visual perception in healthy volunteers: effects of midazolam, a benzodiazepine, on spatio-temporal contrast sensitivity. Br J Clin Pharmacol. 1993;36:117-124.
40. Beazley LD, Illingworth DJ, Jahn A, Greer DV. Contrast sensitivity in children and adults. Br J Ophthalmol. 1980;64:863-866.
41. Knoblauch K, Vital-Durand F, Barbur JL. Variation of chromatic sensitivity across the life span. Vision Res. 2001;41:23-36.
42. Adams CW, Bullimore MA, Wall M, Fingeret M, Johnson CA. Normal aging effects for frequency doubling technology perimetry. Optom Vis Sci. 1999;76:582-587.
43. Castelo-Branco M, Mendes M, Sebastiao AR, et al. Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders. J Clin Invest. 2007;117:3720-3729.
44. Bellugi U, Lichtenberger L, Jones W, Lai Z, St George MI. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses. J Cogn Neurosci. 2000;12(suppl 1): 7-29.