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

ReviewInvestigative ophthalmology & visual science· Jan 2026

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

Shu Liu, Shiqiang Li, Yingwei Wang … Qingjiong Zhang

Neuro-ophthalmologyReviewDiagnosisQ1IF 4.2

Most patients with FRMD7-related infantile nystagmus retain good visual acuity

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

Shu Liu … Qingjiong Zhang

Investigative ophthalmology & visual science · Jan 2026 · Q1 in Ophthalmology

Background

Variants in the FERM domain containing protein 7 gene (FRMD7) constitute one of the most common etiologies underlying idiopathic infantile nystagmus (infantile nystagmus).

Purpose

This study aimed to clarify the pathogenicity of FRMD7 variants and their associated clinical features based on in-house databases and a literature review.

Methods

Families with various genetic eye diseases were collected, and exome sequencing was performed.

n = 75 families

92.1%

Results

92.1%

nearly all had good enough vision to avoid low-vision status

n = 75 families

More results

In our database, a total of 56 P/LP variants (24 truncation, 31 missense, and one indel) were identified in 75 families, including 33 novels.

The pathogenicity of the truncation variants in FRMD7 was well established.

The penetrance in males was 100% (77/77) and in females 39.3% (22/56).

More results

The visual acuity of patients with heterozygous variants was significantly better than that of hemizygotes (P = 8.78e-3).

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Conclusion · 1 of 2

This study summarized the pathogenic characteristics of FRMD7 variants and identified FRMD7-specific optimal assessment tools for missense variants.

Conclusion · 2 of 2

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.

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

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

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