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Abstract：
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder affecting 1 in 3000 births. This familial tumor predisposition syndrome is diagnosed clinically and affects the skin, bones, and nervous system. Malignant tumors can arise in childhood or adulthood and are the most common cause of mortality in this population. Early diagnosis and management led by a multidisciplinary team remains the standard of care, particularly in the management of optic pathway glioma. Emerging concepts in the genetic patterns of this condition have led to the introduction of new treatment modalities that target the mitogen-activated protein kinase and the mammalian target of rapamycin pathways. In this review, the role of the ophthalmologist and approach to screening for optic pathway glioma are outlined based on previous recommendations. Updates on choroidal involvement, as a diagnostic criterion, will also be discussed, further highlighting the pivotal role of the ophthalmologist in the diagnosis and management of this complex condition.
摘要：
1型神经纤维瘤病是一种常染色体显性遗传性神经皮肤疾病，影响3000例新生儿中的1例。这种家族性肿瘤易感性综合征在临床上被诊断并影响皮肤，骨头,和神经系统。恶性肿瘤可发生在儿童或成年期，是该人群中最常见的死亡原因。由多学科团队领导的早期诊断和管理仍然是护理标准，特别是在视神经通路胶质瘤的治疗中。这种病症的遗传模式中的新兴概念已导致引入靶向有丝分裂原激活的蛋白激酶和雷帕霉素途径的哺乳动物靶标的新治疗方式。在这次审查中,根据之前的建议,概述了眼科医生的作用和筛查视路胶质瘤的方法.脉络膜受累的最新情况,作为诊断标准，还将讨论，进一步强调了眼科医生在这种复杂疾病的诊断和治疗中的关键作用。
