Article
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Investigative ophthalmology & visual science - 1 Apr 2025
Gong Xiaoming, Boydstun Ian P, Lawhon William T, Hanna Nancy N, Wall Palak B, Flickinger Aaron, Hartmann E Eugenie, Hertle Richard W
Abstract excerpt
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....
Topics
- Humans
- Male
- Female
- Child
- Nystagmus, Congenital
- Retrospective Studies
- Child, Preschool
- Adolescent
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Infant
- Mutation
- Eye Proteins