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Article

Genomic Copy Number Variants Associated With Strabismus and Amblyopia in the All of Us Research Program.

Investigative ophthalmology & visual science - 1 Jul 2026

Lee Kyoung A Viola, Whitman Mary C

Abstract excerpt

Purpose: To identify rare and common copy number variants (CNVs) associated with strabismus and amblyopia. Methods: Case-control association study using structural variant calls from short-read whole-genome sequencing from the All of Us Research Program, including 1224 adults with strabismus, 564 with amblyopia (152 with both), and controls (95,175 for strabismus; 95,319 for amblyopia). Autosomal CNVs were...

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Source

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Identifiers

PMID: 42411868
DOI: 10.1167/iovs.67.8.21
PMCID: PMC13361834

Genes

GRK5
CAMK2D
COG1
CXCR4
GTF2H1
KMT2C
MDGA2
NKAIN3
PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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