1 型神经纤维瘤病的视觉缺陷与诊断和治疗策略:连接科学与以患者为中心的医疗服务

Vision Pub Date : 2024-05-09 DOI:10.3390/vision8020031
K. Miyagishima, Fengyu Qiao, Steven F. Stasheff, F. Nadal-Nicolás
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摘要

神经纤维瘤病 1 型(NF1)是一种遗传性常染色体显性遗传疾病,主要影响儿童和青少年,以多系统临床表现为特征。神经纤维瘤蛋白是由 Nf1 抑癌基因编码的蛋白质,其突变会导致 RAS/MAPK 通路失调,从而导致细胞生长和迁移失控。神经纤维色素在多种细胞系中高度表达,包括黑色素细胞、神经胶质细胞、神经元和许旺细胞。患有 NF1 的人具有患中枢神经系统肿瘤的遗传易感性,尤其是影响视觉通路的胶质瘤,即所谓的视通路胶质瘤(OPGs)。虽然视神经通路胶质瘤通常是无症状的良性肿瘤,但它们会导致一些患者视力受损。本综述深入探讨了 NF1 的范围和视觉结果、当前的诊断技术和治疗干预措施,并探讨了 NF1-OPGS 对视觉异常的影响。我们重点关注临床前动物模型的最新进展,以阐明 NF1 病理的基本机制和针对 NF1-OPGS 的疗法。总之,我们的综述强调了视网膜神经节细胞功能障碍和变性与 NF1 疾病的关系,以及将实验室的科学发现转化为改善患者预后的进一步研究的必要性。
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Visual Deficits and Diagnostic and Therapeutic Strategies for Neurofibromatosis Type 1: Bridging Science and Patient-Centered Care
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 Nf1 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.
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