Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.

ABSTRACT:

Purpose

Infantile nystagmus syndrome (INS), the most prevalent form of nystagmus in children, often indicates underlying ocular and neurological conditions. Genetic assessment plays a crucial role in clinical management, genetic counseling, and access to emerging gene-based therapies. This study aims to characterize the clinical and genetic landscape of inherited ocular diseases (IODs) in children with INS.

Methods

We retrospectively analyzed clinical and genetic data from 205 unrelated pediatric patients with INS enrolled in an IRB-approved nystagmus registry (2010-2024). All underwent next-generation sequencing (NGS) with targeted gene panels to detect pathogenic variants.

Results

The cohort comprised 117 males and 88 females (mean [SD] age, 8.85 [10.37] years). The

SUBMITTER: Gong X 

PROVIDER: S-EPMC12007677 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature