Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study

Abstract Background Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Anne Munk Henning, Mette Møller Handrup, Sia Mariann Kjeldsen, Dorte Ancher Larsen, Cecilie Ejerskov
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Neurofibromatosis type 1 Optic pathway glioma Sex characteristics Ophthalmological screening Medicine R
Acceso en línea:	https://doaj.org/article/045c400e0415438fa5afd3aa3837fe1a
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:045c400e0415438fa5afd3aa3837fe1a
record_format	dspace
spelling	oai:doaj.org-article:045c400e0415438fa5afd3aa3837fe1a2021-11-28T12:22:42ZOptic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study10.1186/s13023-021-02121-81750-1172https://doaj.org/article/045c400e0415438fa5afd3aa3837fe1a2021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02121-8https://doaj.org/toc/1750-1172Abstract Background Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG. This descriptive study investigated the correlation between NF1-OPG growth, sex and visual impairment. Method We based our cross-sectional study on a systematic, retrospective data collection in a NF1 cohort of children and adolescents below 21 years of age followed at Center for Rare Diseases, Aarhus University Hospital, Denmark. For each patient with OPG a medical chart review was performed including demographics, ophthalmological examinations and magnetic resonance imaging (MRI) of OPG. Results Of 176 patients with NF1 (85 females, 91 males), we identified 21 patients with OPG (11.9%) with a preponderance of females, p = 0.184. Eight females (62%) and one male (13%) had visual impairment at the last ophthalmological evaluation. Five out of 21 children with OPG (24%) underwent diagnostic MRI because of clinical findings at the ophthalmological screening. Nine children (43%) had symptoms suggestive of OPG and seven (33%) experienced no OPG-related symptoms before the diagnostic MRI. Of eight children diagnosed with OPG ≤ two years of age, one had visual impairment. Of 13 children diagnosed > two years of age, eight had visual impairment; in each group, four of the children were treated with chemotherapy. The study suggested no correlation between NF1-OPG growth and sex. Conclusion Our data suggest sex as a risk factor for visual impairment, while an OPG diagnose ≤ two years of age was a protective factor for visual impairment. Females with NF1-OPG had a higher prevalence of visual impairment outcome compared to males. Interestingly, our data also suggest a better response to treatment in children with OPG diagnosed ≤ two years of age compared to older children. The findings in our study suggest sex as a potential prognostic factor for visual impairment.Anne Munk HenningMette Møller HandrupSia Mariann KjeldsenDorte Ancher LarsenCecilie EjerskovBMCarticleNeurofibromatosis type 1Optic pathway gliomaSex characteristicsOphthalmological screeningMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurofibromatosis type 1 Optic pathway glioma Sex characteristics Ophthalmological screening Medicine R
spellingShingle	Neurofibromatosis type 1 Optic pathway glioma Sex characteristics Ophthalmological screening Medicine R Anne Munk Henning Mette Møller Handrup Sia Mariann Kjeldsen Dorte Ancher Larsen Cecilie Ejerskov Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
description	Abstract Background Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG. This descriptive study investigated the correlation between NF1-OPG growth, sex and visual impairment. Method We based our cross-sectional study on a systematic, retrospective data collection in a NF1 cohort of children and adolescents below 21 years of age followed at Center for Rare Diseases, Aarhus University Hospital, Denmark. For each patient with OPG a medical chart review was performed including demographics, ophthalmological examinations and magnetic resonance imaging (MRI) of OPG. Results Of 176 patients with NF1 (85 females, 91 males), we identified 21 patients with OPG (11.9%) with a preponderance of females, p = 0.184. Eight females (62%) and one male (13%) had visual impairment at the last ophthalmological evaluation. Five out of 21 children with OPG (24%) underwent diagnostic MRI because of clinical findings at the ophthalmological screening. Nine children (43%) had symptoms suggestive of OPG and seven (33%) experienced no OPG-related symptoms before the diagnostic MRI. Of eight children diagnosed with OPG ≤ two years of age, one had visual impairment. Of 13 children diagnosed > two years of age, eight had visual impairment; in each group, four of the children were treated with chemotherapy. The study suggested no correlation between NF1-OPG growth and sex. Conclusion Our data suggest sex as a risk factor for visual impairment, while an OPG diagnose ≤ two years of age was a protective factor for visual impairment. Females with NF1-OPG had a higher prevalence of visual impairment outcome compared to males. Interestingly, our data also suggest a better response to treatment in children with OPG diagnosed ≤ two years of age compared to older children. The findings in our study suggest sex as a potential prognostic factor for visual impairment.
format	article
author	Anne Munk Henning Mette Møller Handrup Sia Mariann Kjeldsen Dorte Ancher Larsen Cecilie Ejerskov
author_facet	Anne Munk Henning Mette Møller Handrup Sia Mariann Kjeldsen Dorte Ancher Larsen Cecilie Ejerskov
author_sort	Anne Munk Henning
title	Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
title_short	Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
title_full	Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
title_fullStr	Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
title_full_unstemmed	Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
title_sort	optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
publisher	BMC
publishDate	2021
url	https://doaj.org/article/045c400e0415438fa5afd3aa3837fe1a
work_keys_str_mv	AT annemunkhenning opticpathwaygliomaandthesexassociationinneurofibromatosistype1asinglecenterstudy AT mettemøllerhandrup opticpathwaygliomaandthesexassociationinneurofibromatosistype1asinglecenterstudy AT siamariannkjeldsen opticpathwaygliomaandthesexassociationinneurofibromatosistype1asinglecenterstudy AT dorteancherlarsen opticpathwaygliomaandthesexassociationinneurofibromatosistype1asinglecenterstudy AT cecilieejerskov opticpathwaygliomaandthesexassociationinneurofibromatosistype1asinglecenterstudy
_version_	1718407994619723776

Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study

Ejemplares similares