Czech and Slovak Ophthalmology 126 10.31348/2019/4/4 Original article Neurofibromatosis Type 1 and Optic Pathway Glioma Siwá Aneta Autrata Rudolf https://orcid.org/0000-0002-2689-882X Vejmělková Klára Pavelka Zdeněk Zitterbart Pavel 6 1 2020 4 4

Purpose: Evaluate the effectiveness of treatment of patients with optic pathway glioma. Materials and Methods: Comparison of literature research on neurofibromatosis and optic pathway glioma with a cohort of pediatric patients treated at the Children‘s Ophthalmology Clinic of the University Hospital in Brno from January 2013 until June 2018. Discussion: The main challenge of this and other retrospective studies is variable intervals between ophthalmologic examinations. In some pediatric patients it is also difficult to objectively assess visual functions. The main risk factors are age at the time of treatment and tumor localization. Tumor progression itself does not always correlate with worse visual acuity outcomes, and it remains to be evaluated whether some patients would be better off without treatment. As of now, there are no clinical biomarkers able to predict impending visual acuity loss. Conclusion: The cohort outcome agrees with literature. Chemotherapy remains a treatment of choice and its most likely outcome is visual acuity stabilization. In order to properly evaluate the treatment’s effectiveness, better collaboration between medical specialists and regular standardized ophthalmology examinations are required.

 neurofibromatosis children optic pathway glioma chemotherapy treatment References Aihara, Y., Chiba, K., Eguchi, S. et al.: Pediatric Optic Pathway/ Hypothalamic Glioma. Neurol Med Chir, 58(1); 2018: 1–9. Autrata, R.: Choroby víček a orbity. In Autrata, R. (Ed), Dětská oftalmologie I. část. Sborník prací lékařské fakulty Masarykovy univerzity č. 122. Masarykova univerzita, Brno, 2008, s. 16–17. Awdeh, RM., Keihna, EN., Drewry, RD. et al.: Visual out - comes in pediatric optic pathway glioma after conformal radiation therapy. Int J Radiat Oncol Biol Phys, 84(1); 2012: 46–51. Bakker, AC., La Rosa, S., Sherman, LS. et al.: Neurofibromatosis as a gateway to better treatment for a variety of malignancies. Prog Neurobiol, 2017(152): 149–165. Balcer, LJ., Liu, GT., Heller, G. et al.: Visual loss in children ČESKÁ A SLOVENSKÁ OFTALMOLOGIE 4/2019 208 with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. Am J Ophthalmol, 131(4); 2001: 442–445. Cameron, F., Parsa, R.: Neurogenic tumors. In Pediatric Ophthalmology and Strabismus Fourth Edition. Eds Hoyt, C.S., Taylor, D. Edinburgh: Elsevier Ltd., 2012, s. 206–215. Campen, CJ., Gutmann, DH.: Optic Pathway Gliomas in Neu - rofibromatosis Type 1. J Child Neurol, 33(1); 2017: 73–81. Ceballos-Quintal, JM., Pinto-Escalante, D., Castillo-Zapata, I. et al.: A new case of Klippel-Trenaunay-Weber (KTW) syndrome: Evidence of autosomal dominant inheritance. Am J Med Genet, 63(3); 1996: 426–427. Dalla Via, P., Opocher E., Pinello, ML. et al.: Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program. Neuro Oncol, 9(4); 2007: 430–437. de Blank, PMK., Fisher, MJ., Liu, GT. et al.: Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision. J Neuroophthalmol, 37(Suppl); 2017: 23–32. Dodgshun, AJ., Elder, JE., Hansford, JR. et al.: Long‐term visual outcome after chemotherapy for optic pathway glioma in children: Site and age are strongly predictive. Cancer, 121(23); 2015: 4190–4196. Driever, PH., von Hornstein, S., Pietsch, T. et al.: Natural history and management of low-grade glioma in NF-1 children. J Neurooncol, 100(2); 2010: 199–207. Erdoğan-Bakar, E., Cinbis, M., Ozyürek, H. et al.: Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings. Turk J Pediatr, 51(6); 2009: 565–71. Evans, DGR., Baser, ME., McGaughran, J. et al: Malignant peripheral nerve sheath tumors in neurofibromatosis. J Med Genet, 39(5); 2002: 311–314. Ferner, RE., Huson, SM., Thomas, N. et al.: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet, 44(2); 2007: 81–88. Fisher, MJ., Avery, RA., Allen, JC. et al.: Functional outcome measures for NF1-associated optic pathway glioma clinical trials. Neurology, 81(21 Suppl 1); 2013: 15–24. Fisher, MJ., Loguidice, M., Gutmann, DH. et al.: Visual out - comes in children with neurofibromatosis type 1–associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro Oncol, 14(6); 2012: 790–797. Friedrich, RE., Nuding, MA.: Optic Pathway Glioma and Cerebral Focal Abnormal Signal Intensity in Patients with Neurofibromatosis Type 1: Characteristics, Treatment Choices and Follow-up in 134 Affected Individuals and a Brief Review of the Literature. Anticancer Res, 36(8); 2016: 4095–4121. Gerinec, A.: Fakomatózy. In Gerinec, A. (Ed), Detská oftalmológia. Martin, Osveta, 2005, s. 517–520. Gnekow, AK., Falkenstein, F., von Horstein, S. et al.: Longterm follow-up of the multicenter, multidisciplinary treatment study HIT-LGG-1996 for low-grade glioma in children and adolescents of the German Speaking Society of Pediatric Oncology and Hematology. J Neurooncol, 14(10); 2012: 1265–1284. Grigg, J., Jamieson, R.: Phakomatoses. In Pediatric Ophthal - mology and Strabismus Fourth Edition. Eds Hoyt, C.S., Taylor, D. Edinburgh: Elsevier Ltd., 2012, s. 675–689. Happle, R.: Klippel-Trenaunay syndrome: is it a paradominant trait? Br J Dermatol, 128; 1993: 465. Hudson, S., Beck, L.: Ophthalmic manifestations of neurofib - romatosis. Br J Dermatol, 71(3); 1987: 235–238. Iannaccone, A., McCluney, RA., Brewer, VR. et al.: Visual evoked potentials in children with neurofibromatosis type 1. Doc Ophthalmol 105; 2002: 63–81. Kalin-Hajdu, E., Décarie, JC., Marzouki, M. et al.: Visual acuity of children treated with chemotherapy for optic pathway gliomas. Pediatr Blood Cancer, 61(2); 2013: 223–227. Kissil, J., Blakeley, J., Ferner, R. et al.: What’s New in Neurofibromatosis? Proceedings from The 2009 NF Conference: New Frontiers. Am J Med Genet A, 152 A(2); 2010: 269–283. Korf, BR.: Clinical features and pathobiology of neurofibromatosis. J Child Neurol, 17(8); 2002: 573–577. Moreno, L., Bautista F., Ashley S. et al.: Does chemotherapy affect the visual outcome in children with optic pathway glioma? A systematic review of the evidence. Eur J Cancer, 46(12); 2010: 2253–2259. Otradovec, J.: Ložiskové příznaky nitrolebních nádorů. In Otradovec, J. (Ed), Klinická neurooftalmologie. Praha, Grada, 2003, s. 364–367. Otradovec, J.: Fakomatózy. In Otradovec, J. (Ed), Klinická neurooftalmologie. Praha, Grada, 2003, s. 396–403. Otradovec, J.: Choroby zrakového nervu. In Otradovec, J. (Ed), Klinická neurooftalmologie. Praha, Grada, 2003, s. 193–196. Petrák, B., Plevová, P., Novotný, J. et al.: Neurofibromatosis von Recklinghausen. Klin Onkol, 22(Suppl); 2009: 38–44. Petrák, B., Bendová, Š., Lisý, J. et al.: Neurofibromatosis von Recklinghausen typ 1 (NF1) – klinický obraz a molekulárněgenetická diagnostika. Cesk Patol, 51(1); 2015: 34–40. Rakotonjanahary, J., De Carli, E., Delion, M. et al.: Mortality in Children with Optic Pathway Glioma Treated with Up- -Front BB-SFOP Chemotherapy. PLoS ONE [online], 10(6); 22. června 2015. [cit. 15. prosince 2018]. Dostupné na WWW: < https://doi.org/10.1371/journal.pone.0127676 >.10.1371/journal.pone.0127676 Rasool, N., Odel, JG., Kazim, M.: Optic pathway glioma of childhood. Curr Opin Ophthalmol, 28(3); 2017: 289–295. Robert-Boire, V., Rosca, L., Samson, Y. et al.: Clinical Presentation and Outcome of Patients With Optic Pathway Glioma. Pediatr Neurol, 75; 2017: 55–60. Singhal, S., Birch, JM., Kerr, B. et al.: Neurofibromatosis type 1 and sporadic optic gliomas. Arch Dis Child, 87(1); 2002: 65–70. Taylor, T., Jaspan, T., Milano, G. et al.: Radiological classification of optic pathway gliomas: experience of a modified functional classification system. Br J Radiol, 81(970); 2008: 761–766. Torres Nupan, MM., Van Meerbeke, AV., López Cabra, CA. et al.: Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1. Front Pediatr [online]. Frontiers Media S.A, 5(227); 2017. [cit. 15. prosince 2018]. Dostupné na WWW:<https://www.frontiersin.org/articles/10.3389/ fped.2017.00227/full> Vivarelli, R., Grosso, S., Calabrese, F. et al.: Epilepsy in neurofibromatosis 1. J Child Neurol, 18(5); 2003: 338–42. Walker, DA., Liu, J., Kieran, M. et al.: A multi-disciplinary consensus statement concerning surgical approaches to low-grade, high-grade astrocytomas and diffuse intrinsic pontine gliomas in childhood (CPN Paris 2011) using the Delphi method. Neuro Oncol, 15(4); 2013: 462–468. National Institute of Neurological Disorders and Stroke: Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke [online]. Květen 2011. National Institute of Health, 11-2126.; 6. července 2018. [cit. 15. prosince 2018]. Dostupné na WWW: https://www.ninds.nih. gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/ Neurofibromatosis-Fact-Sheet