关键词: 神经纤维瘤病, 遗传性疾病, 临床特征

Abstract: Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, eyes, skin and bones. When the eyes are involved by NF, the clinical manifestations are varied, which can affect not only the eyelids and orbits, but also the intraocular structures such as the lens, uvea, and retina. It can cause varying degrees of damage to the patient’s appearance and visual function, leading to eyelid ptosis, facial deformities, decreased vision, and visual field defects, seriously affecting the patient's visual quality and quality of life.  (Int Rev Ophthalmol, 2024, 48: 156-Cover III)

Key words: neurofibromatosis, genetic disease, clinical manifestations