Genetic Landscape and Clinical Characterization of FRMD7 -Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review

Key Points

• The central aim is to characterize the pathogenic features of FRMD7 variants and to optimize assessment tools for infantile nystagmus patients.
• Summarized pathogenic characteristics of FRMD7 variants
• Identified optimal assessment tools for missense variants
• Analyzed large in-house datasets alongside literature review
• 92.1% of patients with FRMD7-related infantile nystagmus preserve vision above low vision criteria
• Findings serve as a reference for clinical diagnosis and genetic counseling for these patients