109
Views
0
CrossRef citations to date
0
Altmetric
Original article

Ophthalmologic Findings in Children with Neurofibromatosis Type 1

ORCID Icon, , &
Pages 19-26 | Received 22 Aug 2022, Accepted 16 Oct 2023, Published online: 07 Nov 2023

References

  • Karaconji T, Whist E, Jamieson RV, Flaherty MP, Grigg JRB. Neurofibromatosis type 1: review and update on emerging therapies. Asia Pac J Ophthalmol (Phila). 2019;8(1):62–72. doi:10.22608/APO.2018182.
  • Neurofibromatosis . Conference statement. National institutes of health consensus development conference. Arch Neurol. 1988;45(5):575–578. doi:10.1001/archneur.1988.00520290115023.
  • Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506–1513. doi:10.1038/s41436-021-01170-5.
  • Listernick R, Ferner RE, Liu GT. Optic pathway gliomas in neurofibromatosis‐1: controversies and recommendations. Ann Neurol. https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.21107?casa_token=Ss2X8cXRYFgAAAAA:rHHaIi-CSOLwEHB0qkPbuTURlojQi5TM38RRfgn2z9gfqJCQMxa_pJCqtlA3Z5X5jI-Hnbgwd1rN-Vs. Published online 2007
  • Parrozzani R, Clementi M, Kotsafti O, et al. Optical coherence tomography in the diagnosis of optic pathway gliomas. Invest Ophthalmol Vis Sci. 2013;54(13):8112–8118. doi:10.1167/iovs.13-13093.
  • Kinori M, Hodgson N, Zeid JL. Ophthalmic manifestations in neurofibromatosis type 1. Surv Ophthalmol. 2018;63(4):518–533. doi:10.1016/j.survophthal.2017.10.007.
  • Avery RA, Liu GT, Fisher MJ, et al. Retinal nerve fiber layer thickness in children with optic pathway gliomas. Am J Ophthalmol. 2011;151(3):542–9.e2. doi:10.1016/j.ajo.2010.08.046.
  • Avery RA, Cnaan A, Schuman JS, et al. Longitudinal change of circumpapillary retinal nerve fiber layer thickness in children with optic pathway gliomas. Am J Ophthalmol. 2015;160(5):944–952.e1. doi:10.1016/j.ajo.2015.07.036.
  • Miller DT, Freedenberg D, Schorry E, et al. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019;143(5). doi:10.1542/peds.2019-0660.
  • Avery RA, Bouffet E, Packer RJ, Reginald A. Feasibility and comparison of visual acuity testing methods in children with neurofibromatosis type 1 and/or optic pathway gliomas. Invest Ophthalmol Vis Sci. 2013;54(2):1034–1038. doi:10.1167/iovs.12-11385.
  • Chang L, El-Dairi MA, Frempong TA, et al. Optical coherence tomography in the evaluation of neurofibromatosis type-1 subjects with optic pathway gliomas. J Aapos. 2010;14(6):511–517. doi:10.1016/j.jaapos.2010.08.014.
  • Topcu-Yilmaz P, Kasim B, Kiratli H. Investigation of retinal nerve fiber layer thickness in patients with neurofibromatosis-1. Jpn J Ophthalmol. 2014;58(2):172–176. doi:10.1007/s10384-014-0308-6.
  • Fard MA, Fakhree S, Eshraghi B. Correlation of optical coherence tomography parameters with clinical and radiological progression in patients with symptomatic optic pathway gliomas. Graefes Arch Clin Exp Ophthalmol. 2013;251(10):2429–2436. doi:10.1007/s00417-013-2394-4.
  • Leung MMP, Huang RYC, Lam AKC. Retinal nerve fiber layer thickness in normal Hong Kong Chinese children measured with optical coherence tomography. J Glaucoma. 2010;19(2):95–99. doi:10.1097/IJG.0b013e3181a98cfa.
  • Mrugacz M, Bakunowicz-Lazarczyk A. Optical coherence tomography measurement of the retinal nerve fiber layer in normal and juvenile glaucomatous eyes. Ophthalmologica. 2005;219(2):80–85. doi:10.1159/000083265.
  • Turk A, Ceylan OM, Arici C, et al. Evaluation of the nerve fiber layer and macula in the eyes of healthy children using spectral-domain optical coherence tomography. Am J Ophthalmol. 2012;153(3):552–559.e1. doi:10.1016/j.ajo.2011.08.026.
  • Yanni SE, Wang J, Cheng CS, et al. Normative reference ranges for the retinal nerve fiber layer, macula, and retinal layer thicknesses in children. Am J Ophthalmol. 2013;155(2):354–360.e1. doi:10.1016/j.ajo.2012.08.010.
  • El-Dairi MA, Asrani SG, Enyedi LB, Freedman SF. Optical coherence tomography in the eyes of normal children. Arch Ophthalmol. 2009;127(1):50–58. doi:10.1001/archophthalmol.2008.553.
  • Vagge A, Camicione P, Capris C, et al. Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population. Acta Ophthalmol. 2015;93(8):e667–71. doi:10.1111/aos.12750.
  • Viola F, Villani E, Natacci F, et al. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology. 2012;119(2):369–375. doi:10.1016/j.ophtha.2011.07.046.
  • Parrozzani R, Clementi M, Frizziero L, et al. In vivo detection of choroidal abnormalities related to NF1: feasibility and comparison with standard NIH diagnostic criteria in pediatric patients. Invest Ophthalmol Vis Sci. 2015;56(10):6036–6042. doi:10.1167/iovs.14-16053.
  • Kehrer-Sawatzki H, Cooper DN. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Hum Genet. 2022;141(2):177–191. doi:10.1007/s00439-021-02410-z.
  • Cassiman C, Casteels I, Jacob J, et al. Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool? Clin Genet. 2017;91(4):529–535. doi:10.1111/cge.12873.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.