scholarly journals Ophthalmological examination in neurofibromatosis type 1: a long-term retrospective analysis

2018 ◽  
Vol 96 (8) ◽  
pp. e1044-e1046 ◽  
Author(s):  
Catherine Cassiman ◽  
Annouschka Laenen ◽  
Sandra Jacobs ◽  
Philippe Demaerel ◽  
Eric Legius ◽  
...  
Keyword(s):  
Retrospective Analysis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Ophthalmological Examination

scholarly journals NIMG-66. LONG-TERM FOLLOW-UP OF NEUROFIBROMATOSIS TYPE 1 PATIENTS USING WHOLE-BODY MRI DEMONSTRATES DYNAMIC CHANGES IN INTERNAL NEUROFIBROMA SIZE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi176-vi176
Author(s):  
Ina Ly ◽  
Raquel Thalheimer ◽  
Wenli Cai ◽  
Miriam Bredella ◽  
Vanessa Merker ◽  
...  
Keyword(s):  
Tumor Growth ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Childhood And Adolescence ◽  
Entire Study ◽  
Whole Body Mri

Abstract BACKGROUND Neurofibromas affect 40–50% of neurofibromatosis type 1 (NF1) patients and can cause significant morbidity and mortality. They grow more rapidly during childhood and adolescence but studies in adults are limited by their retrospective nature and follow-up time < 3 years. The long-term natural history of neurofibromas remains unknown. No guidelines exist on the need and frequency of surveillance imaging for patients. Whole-body MRI (WBMRI) can detect whole-body tumor burden, including internal neurofibromas. METHODS 17 adult NF1 patients who underwent WBMRI between 2007–2010 (Scan 1) underwent repeat WBMRI between 2018–2019 (Scan 2). Internal neurofibromas were segmented on short tau inversion recovery (STIR) sequences and tumor volume was calculated using a computerized volumetry and three-dimensional segmentation software. Circumscribed tumors were defined as discrete; invasive tumors or those involving multiple nerves were defined as plexiform. Tumor growth and shrinkage were defined as volume change ≥ 20% over the entire study period. RESULTS Median patient age was 43 years during Scan 1 and 53 years during Scan 2. Median time between Scan 1 and 2 was 9 years. A total of 140 neurofibromas were assessed. 24% of tumors grew by a median 63% (6.8% per year). 54% of tumors spontaneously decreased in volume by a median 60% (7% per year) without treatment. On a per-patient basis, 18% of patients had overall tumor growth and 41% overall tumor shrinkage. 8 new tumors developed in 7 patients. 16 tumors resolved entirely without medical or surgical intervention. Growth behavior did not correlate with discrete or plexiform morphology. CONCLUSION A subset of internal neurofibromas in adult NF1 patients grow significantly over a long-term period, suggesting that continued monitoring of these patients may be warranted. Surprisingly, more than half of neurofibromas shrink spontaneously without intervention. Continued patient enrollment and correlation of imaging findings with functional outcomes are underway.

Retrospective analysis of patients attending a neurofibromatosis type 1 clinic

2007 ◽  
Vol 43 (1-2) ◽  
pp. 55-59 ◽  
Author(s):  
Fiona Noble ◽  
Andrew J Kornberg ◽  
James E Elder ◽  
Martin B Delatycki
Keyword(s):  
Retrospective Analysis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals NFM-13. LONG TERM FOLLOW-UP OF OPTIC PATHWAY GLIOMAS IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 – AN ONCOLOGY HOSPITAL EXPERIENCE

2018 ◽  
Vol 20 (suppl_2) ◽  
pp. i145-i145
Author(s):  
Mariana Fernandes ◽  
João Passos ◽  
Daniela Garcez ◽  
Manuela Mafra ◽  
Maria Fátima Campos ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway ◽  
Hospital Experience ◽  
Long Term Follow Up ◽  
Optic Pathway Gliomas

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Antonietta Moramarco ◽  
Luca Lucchino ◽  
Fabiana Mallone ◽  
Michela Marcelli ◽  
Ludovico Alisi ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Healthy Subjects ◽  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
Neurofibromatosis Type ◽  
Implicit Time ◽  
Control Group ◽  
Ophthalmological Examination ◽  
Significant Difference

Abstract The aim of the study was to examine neuroretinal function by using the mfERG test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs). This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including multifocal electroretinography (mfERG). 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field. Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy subjects, while the reduction was not significant in the 2 central degrees. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes in the nasal quadrants. No differences in the implicit times were recorded in the 4 quadrants and in the 2 central degrees as compared between NF1 patients and controls. The present study demonstrates impaired neuroretinal function in NF1 patients. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, could be involved. Our results suggest a possible use of mfERG as subclinical retinal damage indicator with a potential utility in clinical practice for the follow-up of NF1 patients.

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