Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2024, Vol. 38 ›› Issue (4): 166-174.doi: 10.6040/j.issn.1673-3770.0.2023.101

• Review • Previous Articles    

Research progress in the diagnosis and treatment of incontinentia pigmenti-related eye diseases

AI Zhaohui1,2, ZHANG Jie2   

  1. 1. School of Clinical Medicine, Weifang Medical University, Weifang 261042, Shandong, China2. Department of Fundus Ward, Weifang Eye Hospital, Weifang 261041, Shandong, China
  • Published:2024-07-09

Abstract: Incontinentia pigmenti is a rare X-linked genetic disease more commonly observed in women, presenting with characteristic skin lesions. Complications of this disease include ocular and central nervous system abnormalities. Incontinentia pigmenti-associated ophthalmopathy is characterized by abnormal retinal vascular perfusion and ischemic proliferation, as well as non-retinal manifestations such as cataracts and strabismus. Early examination, timely treatment, and regular follow-ups are essential in preventing progressive and permanent vision loss. This article summarizes the pathogenesis, clinical manifestations and stages, and diagnostic criteria of these diseases, as well as methods of auxiliary examination, differential diagnosis, treatment, and long-term follow-up management.

Key words: Incontinentia pigmenti, NEMO gene, Retinal vascular abnormalities, Anti-VEGF therapy

CLC Number: 

  • R779.7
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