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Quantitative Volumetric Analysis of Optic Pathway Gliomas in Children with NF1

Key Personnel

  • Marius George Linguraru, DPhil 
  • Robert Avery, DO 
  • Awais Mansoor, PhD 
  • Gilbert Vezina, MD

Nearly 20 percent of children with Neurofibromatosis Type 1 (NF1) will develop an optic pathway glioma (OPG). OPGs can cause permanent vision loss ranging from a mild decline in visual acuity to complete blindness. About 50 percent of children with OPGs will experience vision loss from their tumor, typically between 1 to 8 years of age, which has a significant impact on a child’s quality of life. However, identifying which children will lose vision remains elusive and frequently results in unnecessary treatment in some and delayed treatment in others.

Risk stratification of vision loss using an objective quantitative marker could significantly improve the care of children with NF1-OPG. We hypothesize that by developing and validating automated quantitative magnetic resonance imaging (MRI) analysis of the optic nerve in children with NF1-OPG, we will: establish standardized criteria of OPG diagnosis and thus reduce inappropriate diagnosis, imaging, treatment, and inherent costs; provide an objective and quantitative understanding of tumor growth and response to treatment for personalized clinical management of NF1-OPG; and ultimately be able to stratify patients based on their MRI assessment into a low versus high risk of vision loss, and thus improve clinical decision making.