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Chinese Journal of Ophthalmologic Medicine(Electronic Edition) ›› 2024, Vol. 14 ›› Issue (06): 363-367. doi: 10.3877/cma.j.issn.2095-2007.2024.06.008

• Review • Previous Articles    

Advance on pathogenic genes and molecular genetics of congenital nystagmus

Chuyi Zhou1, Lejin Wang1,()   

  1. 1.Department of Ophthalmology,Peking University People's Hospital,Beijing 100044,China;Beijing Key Laboratory of Ocular Disease and Optometry Science,Peking University People's Hospital,Beijng 100044,China
  • Received:2024-11-08 Online:2024-12-28 Published:2025-03-03
  • Contact: Lejin Wang

Abstract:

Congenital nystagmus(CN)is a type of ocular motor disorder characterized by involuntary oscillation of eyes,typically occurred in the first six months of life.It can be related to the sensory disorder result by inherited retinal disease,or be idiopathic.As a common phenotype of many disease,the genetic complexity and diverse inheritance pattern of CN present a great challenge of monogenic diagnosis.Recent development of next-generation sequencing technologies significantly enhanced the identification of pathogenic genes,while the gene therapy has made a great progress.Therefore,it is crucial to summarize the genotype and phenotype association of CN and its related inherited retinal diseases.The identified genes and the underlying molecular mechanisms linked to CN,drawing upon the latest findings from international research were systematically reviewed in the paper,aiming to provide novel insights and a comprehensive reference for improving the diagnosis,classification,and treatment of CN.

Key words: Congenital nystagmus, Genotype, Phenotype, Inherited retinal disease

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