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Original Research

Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies

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Pages 119-127 | Published online: 21 Oct 2020

References

  • Uusitalo E, Leppävirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol. 2015;135(3):904–906. doi:10.1038/jid.2014.46525354145
  • Moramarco A, Miraglia E, Mallone F, et al. Retinal microvascular abnormalities in neurofibromatosis type 1. Br J Ophthalmol. 2019;103(11):1590–1594. doi:10.1136/bjophthalmol-2018-31300230705042
  • Moramarco A, Lambiase A, Mallone F, Miraglia E, Giustini S. A characteristic type of retinal microvascular abnormalities in a patient with neurofibromatosis type 1. Clin Ter. 2019;170(1):e4–e9. doi:10.7417/CT.2019.210130789191
  • Kinori M, Hodgson N, Zeid JL. Ophthalmic manifestations in neurofibromatosis type 1. Surv Ophthalmol. 2018;63(4):518–533. doi:10.1016/j.survophthal.2017.10.00729080631
  • Leppävirta J, Kallionpää RA, Uusitalo E, et al. Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study. Orphanet J Rare Dis. 2018;13(1):5. doi:10.1186/s13023-017-0756-429335026
  • Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834–843. doi:10.1016/S1474-4422(14)70063-825030515
  • Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017;3:17004. doi:10.1038/nrdp.2017.428230061
  • Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature. 1992;356(6371):713–715. doi:10.1038/356713a01570015
  • Karlsgodt KH, Rosser T, Lutkenhoff ES, Cannon TD, Silva A, Bearden CE. Alterations in white matter microstructure in neurofibromatosis-1. PLoS One. 2012;7(10):e47854. doi:10.1371/journal.pone.004785423094098
  • López-Juárez A, Titus HE, Silbak SH, et al. Oligodendrocyte Nf1 controls aberrant notch activation and regulates myelin structure and behavior. Cell Rep. 2017;19(3):545–557. doi:10.1016/j.celrep.2017.03.07328423318
  • Mayes DA, Rizvi TA, Titus-Mitchell H, et al. Nf1 loss and Ras hyperactivation in oligodendrocytes induce NOS-driven defects in myelin and vasculature. Cell Rep. 2013;4(6):1197–1212. doi:10.1016/j.celrep.2013.08.01124035394
  • Koini M, Rombouts SARB, Veer IM, et al. White matter microstructure of patients with neurofibromatosis type 1 and its relation to inhibitory control. Brain Imaging Behav. 2017;11(6):1731–1740. doi:10.1007/s11682-016-9641-327796732
  • DiPaolo DP, Zimmerman RA, Rorke LB, et al. Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology. 1995;195(3):721–724. doi:10.1148/radiology.195.3.77540017754001
  • Baudou E, Nemmi F, Biotteau M, et al. Can the cognitive phenotype in neurofibromatosis type 1 (NF1) be explained by neuroimaging? A review. Front Neurol. 2020;10:1373. doi:10.3389/fneur.2019.0137331993017
  • Bulgheroni S, Taddei M, Saletti V, et al. Visuoperceptual impairment in children with NF1: from early visual processing to procedural strategies. Behav Neurol. 2019;2019:7146168. doi:10.1155/2019/714616830733835
  • Violante IR, Ribeiro MJ, Cunha G, et al. Abnormal brain activation in neurofibromatosis type 1: a link between visual processing and the default mode network. PLoS One. 2012;7(6):e38785. doi:10.1371/journal.pone.003878522723888
  • Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45(5):575–578.3128965
  • Odom JV, Bach M, Brigell M, et al. ISCEV standard for clinical visual evoked potentials: (2016 update). Doc Ophthalmol. 2016;133(1):1–9. doi:10.1007/s10633-016-9553-y
  • Fishman GA, Birch DG, Holder GE, Brigell MG. Electrophysiologic Testing in Disorders of the Retina, Optic Nerve, and Visual Pathway. 2nd ed. San Francisco, USA: American Academy of Ophthalmology Monograph Series; 2002.
  • Hemptinne C, Liu-Shuang J, Yuksel D, et al. Rapid objective assessment of contrast sensitivity and visual acuity with sweep visual evoked potentials and an extended electrode array. Invest Ophthalmol Vis Sci. 2018;59(2):1144–1157. doi:10.1167/iovs.17-2324829490352
  • Nebbioso M, Barbato A, Pescosolido N. Scotopic microperimetry in the early diagnosis of age-related macular degeneration: preliminary study. Biomed Res Int. 2014;2014:671529. doi:10.1155/2014/67152925548774
  • Rosenbaum T, Kim HA, Boissy YL, Ling B, Ratner N. Neurofibromin, the neurofibromatosis type 1 Ras-GAP, is required for appropriate P0 expression and myelination. Ann N Y Acad Sci. 1999;883:203–214. doi:10.1111/j.1749-6632.1999.tb08583.x
  • Shin J, Padmanabhan A, de Groh ED, et al. Zebrafish neurofibromatosis type 1 genes have redundant functions in tumorigenesis and embryonic development. Dis Model Mech. 2012;5(6):881–894. doi:10.1242/dmm.00977922773753
  • Nebbioso M, Gregorio FD, Prencipe L, Pecorella I. Psychophysical and electrophysiological testing in ocular hypertension. Optom Vis Sci. 2011;88(8):E928–E939. doi:10.1097/OPX.0b013e31821c6ca421532514
  • Nebbioso M, Steigerwalt RD, Pecori-Giraldi J, Vingolo EM. Multifocal and pattern-reversal visual evoked potentials vs. automated perimetry frequency-doubling technology matrix in optic neuritis. Indian J Ophthalmol. 2013;61(2):59–64. doi:10.4103/0301-4738.9963823412522
  • Miguel CS, Chaim-Avancini TM, Silva MA, Louzã MR. Neurofibromatosis type 1 and attention deficit hyperactivity disorder: a case study and literature review. Neuropsychiatr Dis Treat. 2015;11:815–821. doi:10.2147/NDT.S7503825848279
  • Torres Nupan MM, Velez Van Meerbeke A, López Cabra CA, Herrera Gomez PM. Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1. Front Pediatr. 2017;5:227. doi:10.3389/fped.2017.0022729164079
  • Lion-François L, Herbillon V, Peyric E, et al. Attention and Executive disorders in neurofibromatosis 1: comparison between NF1 with ADHD symptomatology (NF1 + ADHD) and ADHD Per Se. J Atten Disord. 2017:1087054717707579. doi:10.1177/1087054717707579.
  • Ribeiro MJ, d’Almeida OC, Ramos F, Saraiva J, Silva ED, Castelo-Branco M. Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficits. J Neurodev Disord. 2014;6(1):4. doi:10.1186/1866-1955-6-424559228
  • Jabbari B, Maitland CG, Morris LM, Morales J, Gunderson CH. The value of visual evoked potential as a screening test in neurofibromatosis. Arch Neurol. 1985;42(11):1072–1074. doi:10.1001/archneur.1985.040601000540223931615
  • Moramarco A, Giustini S, Nofroni I, et al. Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1. Graefes Arch Clin Exp Ophthalmol. 2018;256(2):307–311. doi:10.1007/s00417-017-3870-z29290016
  • Moramarco A, Giustini S, Miraglia E, Sacchetti M. SD-OCT in NIR modality to diagnose retinal microvascular abnormalities in neurofibromatosis type 1. Graefes Arch Clin Exp Ophthalmol. 2018;256(9):1789–1790. doi:10.1007/s00417-018-4028-329860546
  • Moramarco A, Sacchetti M, Franzone F, et al. Ocular surface involvement in patients with neurofibromatosis type 1 syndrome. Graefes Arch Clin Exp Ophthalmol. 2020;258(8):1757–1762. doi:10.1007/s00417-020-04717-532388624
  • Nebbioso M, Grenga R, Karavitis P. Early detection of macular changes with multifocal ERG in patients on antimalarial drug therapy. J Ocul Pharmacol Ther. 2009;25(3):249–258. doi:10.1089/jop.2008.010619348599