International Review of Ophthalmology ›› 2024, Vol. 48 ›› Issue (2): 156-封三.doi: 10.3760/ cma.j.issn.1673-5803.2024.02.014

Previous Articles    

Clinical manifestations of ocular involving neurofibromatosis 

Feng Yun1, Li Ting2, Chen Ling1, Zhang Shasha1, Hong Xia1, Lin Ping1, Mao Zhen3   

  1. 1 Department of Ophthalmology, Xi’an Children’s Hospital,  Xi’an 710003, China; 2 Department of Ophthalmology, First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130000, China; 3 Zhongshan Ophthalmologic Center, Sun Yat-Sen University, State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou 510060, China
  • Received:2023-12-07 Online:2024-04-22 Published:2024-04-22
  • Contact: Mao Zhen, Email: mz1981@163.com

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