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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....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Nystagmus, Congenital

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Source

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Identifiers

PMID: 40232708
DOI: 10.1167/iovs.66.4.39
PMCID: PMC12007677

Genes

INS
ABCA4
AIPL1
CABP4
CNGB3
FRMD7
GPR143
GUCY2D
IMPDH1
NMNAT1
OCA2
PRPH2
RDH12
RPGR
RPGRIP1
TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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