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

This study summarized the pathogenic characteristics of FRMD7 variants and identified FRMD7-specific optimal assessment tools for missense variants. Patients with FRMD7-related infantile nystagmus (FIN) show preserved vision (92.1% above the criteria for low vision). These findings provide a valuable reference for clinical diagnosis and genetic counseling of FIN.