Visual Deficits and Diagnostic and Therapeutic Strategies for Neurofibromatosis Type 1: Bridging Science and Patient-Centered Care

• Published in: Vision (Basel) 2024-05, Vol.8 (2), p.31
• Main Authors: Miyagishima, Kiyoharu J, Qiao, Fengyu, Stasheff, Steven F, Nadal-Nicolás, Francisco M
• Format: Article
• Language: English
• Subjects: Animal models; Antimitotic agents; Antineoplastic agents; Blindness; Brain research; Care and treatment; Cell growth; Cell migration; Central nervous system; chiasm; childhood; Development and progression; Eye diseases; Genes; Genetic disorders; Glial cells; Glioma; Glioma cells; Gliomas; Health aspects; Hereditary diseases; Hypothalamus; Kinases; Magnetic resonance imaging; MAP kinase; Melanocytes; Mutation; Neurofibromatosis; Neuronal-glial interactions; NF1; ocular pathologies; Optic nerve; Patient compliance; Patients; pediatric low-grade glioma; Pediatrics; Photoreceptors; Recklinghausen's disease; Review; Schwann cells; Scoliosis; Spectrum analysis; Strabismus; Therapeutic applications; Tumor suppressor genes; Tumors; Visual acuity; Visual impairment; Visual pathways
• ISSN: 2411-5150; 2411-5150
• DOI: 10.3390/vision8020031

Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder primarily affecting children and adolescents characterized by multisystemic clinical manifestations. Mutations in neurofibromin, the protein encoded by the tumor suppressor gene, result in dysregulation of the RAS/MAPK pathway leading to uncontrolled cell growth and migration. Neurofibromin is highly expressed in several cell lineages including melanocytes, glial cells, neurons, and Schwann cells. Individuals with NF1 possess a genetic predisposition to central nervous system neoplasms, particularly gliomas affecting the visual pathway, known as optic pathway gliomas (OPGs). While OPGs are typically asymptomatic and benign, they can induce visual impairment in some patients. This review provides insight into the spectrum and visual outcomes of NF1, current diagnostic techniques and therapeutic interventions, and explores the influence of NF1-OPGS on visual abnormalities. We focus on recent advancements in preclinical animal models to elucidate the underlying mechanisms of NF1 pathology and therapies targeting NF1-OPGs. Overall, our review highlights the involvement of retinal ganglion cell dysfunction and degeneration in NF1 disease, and the need for further research to transform scientific laboratory discoveries to improved patient outcomes.